Oral presentations
Molecular determinants of innate immunity
O01 New MVK mutant mouse avatars of mevalonate kinase deficiency mimic the underlying defect in protein prenylation in patients
Marcia A. Munoz1, Oliver P. Skinner1, Julie Jurczyluk1, Kristen Perry1, Robert Brink2, David Zahra2, Rob J. Arts3, Anna Simon3, Michael J. Rogers1
1Bone Biology; 2Immunology, Garvan Institute of Medical Research, Sydney, Australia; 3Medical Centre, Radboud University, Nijmegen, Netherlands
O02 Generation and analysis of mice carrying a novel heterozygous missense mutation of a proteasome subunit, PSMB9, in patients with autoinflammation and immunodeficiency
Hiroaki Hemmi1, Nobuo Kanazawa2, Noriko Kinjo3, Satoru Hamada3, Hidenori Ohnishi4, Tsunehiro Mizushima5, Akira Kinoshita6, Koh-Ichiro Yoshiura6, Tsuneyasu Kaisho1
1Department of Immunology, Wakayama Medical University Institute of Advanced Medicine; 2Department of Dermatology, Wakayama Medical University, Wakayama; 3Department of Child Health and Welfare (Pediatrics), University of the Ryukyus Graduate School of Medicine, Nishihara; 4Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu; 5Picobiology Institute, University of Hyogo Graduate School of Life Science, Kamigori; 6Department of Human Genetics, Nagasaki University Atomic Bomb Disease Institute, Nagasaki, Japan
Mechanisms of inflammasome activation
O03 Cofilin-1 is an essential redox sensor for NLRP3 inflammasome activation
Wonyong Lee, Yong Hwan Park, Daniel L. Kastner, Jae Jin Chae
NHGRI, Bethesda, United States
O04 Autoinflammatory mutation in NLRC4 reveals an LRR-LRR oligomerization interface
Fiona Moghaddas1,2,3, Ping Zeng4, Yuxia Zhang5, Heike Schuetzle6, Sebastian Brenner6, Sigrun Hofmann6, Reinhard Berner6, Yuanbo Zhao5,7, Bingtai Lu5, Xiaoyun Chen5, Li Zhang5, Suyun Cheng4, Stefan Winkler6, Kai Lehmberg8, Scott W. Canna9, Peter E. Czabotar10,11, Ian P. Wicks2,11,12, Dominic De Nardo2,11, Christian Hendrich6,13,14, Huasong Zeng4, Seth L. Masters2,11
1Clinical Immunology and Allergy, The Royal Melbourne Hospital, Melbourne; 2Inflammation Division, The Walter and Eliza Hall Institute of Medical Research; 3Department of Medical Biology, The University of Melbourne, Parkville, Australia; 4Department of Rheumatology; 5Immunology Laboratory, Guangzhou Women and Children’s Medical Centre, Guangzhou, China; 6Department of Pediatrics, University Hospital and Faculty of Medicine Carl Gustav Carus, Dresden, Germany; 7Department of Chemical Biology, Guizhou Medical University, Guiyang, China; 8Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg Eppendorf, Hamburg, Germany; 9Pediatric Rheumatology/RK Mellon Institute, Children’s Hospital of Pittsburgh ofUPMC, Pittsburgh, United States; 10Structural Biology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville; 11Department of Medical Biology, The University of Melbourne, Melbourne; 12Rheumatology Department, The Royal Melbourne Hospital, Parkville, Australia; 13Department of Women’s & Children’s Health, nstitute of Translational Medicine, University of Liverpool; 14Department of Pediatrics Rheumatology, Alder Hey Children's NHS Foundation Trust Hospital, Liverpool, United Kingdom
Multifactorial vs monogenic autoinflammatory diseases
O05 Canakinumab, on a reduced dose or a prolonged dose interval without concomitant corticosteroids and methotrexate, maintains efficacy in systemic juvenile idiopathic arthritis patients in clinical remission
Pierre Quartier1, Ekaterina Alexeeva2, Carine Wouters3, Inmaculada Calvo4, Tilmann Kallinich5, Bo Magnusson6, Nico Wulffraat7, Xiaoling Wei8, Alan Slade9, Ken Abrams9, Alberto Martini10
1AP-HP, Institut des Maladies Génétiques (IMAGINE), and Université Paris-Descartes, Necker-Enfants Malades Hospital, Paris, France; 2National Medical Research Center of Children's Health and Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation, Moscow, Russian Federation; 3Gasthuisberg University Hospital,Leuven, Belgium; 4Hospital Universitario La Fe, Valencia, Spain; 5Charité Berlin Campus Virchow, Berlin, Germany; 6Karolinska University Hospital, Stockholm, Sweden; 7University Medical Center Utrecht, Utrecht, Netherlands; 8China Novartis Institutes for Biomedical Research Co., Ltd, Beijing, China; 9Novartis Pharmaceuticals Corporation, East Hanover, United States; 10Universita di Genova Pediatria II, Genova, Italy
O06 IL-18:CXCL9 ratio as a predictor of treatment response in patients with systemic juvenile idiopathic arthritis treated with canakinumab
Tanja Hinze1, Christoph Kessel1, Claas Hinze1, Julia Seibert2, Hermann Gram2, Dirk Foell1
1Department of Pediatric Rheumatology and Immunology, Muenster University Hospital, Muenster, Germany; 2Novartis Pharma, Basel, Switzerland
IL-18:CXCL9 ratio at baseline | IFN-γ:CXCL9 ratio at baseline | |||||
---|---|---|---|---|---|---|
Responders | Non-Responders | P value* | Responders | Non-Responders | P value* | |
pACR30 at day 15 | 2.54 (0.03-557.31) | 0.34 (0.01-1.62) | 0.004 | 5.27 (0.19-68.32) | 0.82 (0.24-4.85) | 0.003 |
pACR50 at day 15 | 2.37 (0.03-557.31) | 0.36 (0.01-3.76) | 0.010 | 5.23 (0.19-68.32) | 1.35 (0.24-5.38) | 0.007 |
pACR70 at day 15 | 2.54 (0.03-557.31) | 0.57 (0.01-42.27) | 0.052 | 5.27 (0.19-68.32) | 1.56 (0.24-20.03) | 0.015 |
pACR90 at day 15 | 3.69 (0.03-557.31) | 0.57 (0.01-42.27) | 0.006 | 7.51 (0.19-68.32) | 1.88 (0.19-20.03) | 0.002 |
pACR100 at day 15 | 3.99 (0.05-557.31) | 0.57 (0.01-42.27) | 0.001 | 8.35 (0.19-68.32) | 1.97 (0.19-43.46) | 0.002 |
CID at day 15 | 3.84 (0.03-557.31) | 0.66 (0.01-42.81) | 0.015 | 8.34 (0.62-68.32) | 1.97 (0.19-41.52) | 0.002 |
Sustained complete response | 5.52 (0.03-557.31) | 0.65 (0.01-277.69) | 0.002 | 8.35 (0.62-68.32) | 2.01 (0.19-43.46) | 0.002 |
Update of autoinflammatory diseases
O07 The NIH cohort study of DADA2 patients: novel insights into pathophysiology and treatment with TNF inhibitors
Qing Zhou1,2, Natalie Deuitch1, Dan Yang3, Natalia Sampaio Moura1, Xiaomin Yu4, Oskar Schnappauf1, Patrycja Hoffmann1, Deborah Stone1, Amanda Ombrello1, Manfred Boehm3, Daniel Kastner1, Ivona Aksentijevich1
1NHGRI/NIH, Bethesda, United States; 2Zhejiang University, Hang Zhou, China; 3NHLBI/NIH; 4NIAID/NIH, Bethesda, United States
O08 Recommendation on colchicine dosing and definition of colchicine resistance/intolerance in the management of FMF
Seza Ozen1, Erdal Sag1, Eldad Ben-Chetrit2, Marco Gattorno3, Ahmet Gul4, Philip Hashkes5, Isabelle Kone-Paut6, Helen Lachmann7, Elena Tsitsamis8, Marinka Twilt9, Fabrizio de Benedetti10, Jasmin B. Kuemmerle-Deschner11
1Pediatric Rheumatology, Hacettepe University, Ankara, Turkey; 2Rheumatology Unit, Hadassah-Hebrew University Hospital, Jerusalem, Israel; 3Clincal Pediatrics and Rheumatology, Gaslini Institute, Genova, Italy; 4Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul, Turkey; 5Pediatric Rheumatology Unit, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel; 6Service de rhumatologie pédiatrique, CHU de Bicêtre, Le Kremlin-Bicêtre, France; 7Royal Free Campus, National Amyloidosis Centre, London, United Kingdom; 8First Department of Pediatrics, Aghia Sophia Childrens Hospital, University of Athens Medical School, Athens, Greece; 9Rheumatology, Department of Pediatrics, Alberta Children’s Hospital, University of Calgary, Calgary, Canada; 10Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy; 11Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen, Tuebingen, Germany
Oral communications – clinical
O09 The clinical spectrum of the deficiency of adenosine deaminase 2 (DADA2) continues to expand
Karyl Barron1, Amanda Ombrello2, Debra Stone2, Patrycja Hoffmann2, Tina Romeo2, Anne Jones2, Natalia Sampaio Moura2, Oskar Schnappauf2, Ivona Aksentijevich2, Jenna Bergerson1, Ariane Soldatos3, Camilo Toro2, Dan Kastner2
1NIAID; 2NHGRI; 3NINDS, NIH, Bethesda, United States
O10 Serum S100A8/A9 (calprotectin) in familial mediterranean fever and carriers of MEFV mutations does not correlate with disease activity
Ruth Pepper1, Mathew Hutchinson2, Scott R. Henderson3, Sarah K. Todd3, Alan D. Salama3, Philip N. Hawkins4, Dorota Rowczenio4, Helen J. Lachmann4
1Centre for Nephrology, UCL; 2Rheumatology, University College Hospital; 3Centre for Nephrology; 4National Amyloidosis Centre, UCL Division of Medicine and Royal Free Hospital NHS Foundation Trust, London, United Kingdom
O11 PAPA syndrome: novelties from the Eurofever registry
Roberta Caorsi, Daniela Marotto, Antonella Insalaco, Angelo Marzano, Joost Frenkel, Graciela Espada, Immaculada Calvo Penades, Marijia Jelusic, Maria Cristina Maggio, Joost Swart, Esther Hoppenreijs, Ozgur Kasapcopur, Fabrizio De Benedetti, Marco Gattorno, The Pediatric Rheumatology International Trial Organization (PRINTO) and the Eurofever Project
Center for Autoinflammatory Diseases and Immunodeficiency, Istituto G. Gaslini, Genova, Italy
O12 New classification criteria for recurrent autoinflammatory diseases applied to an independent cohort: experience from the JIR cohort database
Glory Dingulu1, Sophie Georgin-Lavialle2, Isabelle Koné-Paut3, Pascal Pillet4, Anne Pagnier5, Etienne Merlin5, Daniela Kaiser6, Alexandre Belot7, Michael Hofer8, Véronique Hentgen9
1Centre Hospitalier Versailles, Le Chesnay; 2Service de Médecine Interne-CEREMAIA, Centre Hospitalier Universitaire Tenon, Paris; 3Service de Rhumatologie Pédiatrique-CEREMAIA, Centre Hospitalier Universitaire Le Kremlin Bicêtre, Le Kremlin Bicêtre; 4Service d’Accueil des Urgences Pédiatriques, Centre Hospitalier Universitaire Pellegrin, Bordeaux; 5Service de Pédiatrie Générale, Centre Hospitalier Universitaire Clermont Ferrand, Clermont Ferrand, France; 6Service de Pédiatrie Générale, Centre Hospitalier Cantonal Luzern, Luzern, Switzerland; 7Service de Néphrologie-Rhumatologie Pédiatrique, Centre Hospitalier Universitaire Mère-Enfant, Bron, France; 8Service de Rhumatologie Pédiatrique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; 9Service de Pédiatrie Générale-CEREMAIA, Centre Hospitalier Versailles, Le Chesnay, France
O13 Impaired platelet functions in patients treated with colchicine
Özlem Çimen1, Selcan Demir2, Erdal Sağ2, Armağan Keskin1, Yelda Bilginer2, Şule Ünal Cangül3, Seza Özen2
1Department of Pediatrics; 2Department of Pediatric Rheumatology; 3Department of Pediatric Hematology, Hacettepe University Medical Faculty, Ankara, Turkey
O14 Autoinflammatory disorders in patients with myelodysplastic syndrome: the role of distinctive karyotypes and somatic mutations
Mark Kacar1, Abdulla Watad2, Nicola Bragazzi3, Qiao Zhou2, Catherine Cargo4, Dennis McGonagle2, Sinisa Savic2
1Department of Clinical Immunology and Allergy, St James University Hospital; 2LIRMM, University of Leeds, Leeds, United Kingdom; 3Department of Health Sciences, University of Genoa, Genoa, Italy; 4Department of Haematology, St James University Hospital, Leeds, United Kingdom
Predictor | OR [95%CI] | Statistical significance | |
---|---|---|---|
Overall autoinflammation | Transcription factor pathway | 3.15 [95%CI 1.04 to 9.56] | 0.0426 |
Deletion of chromosome 5 | 3.37 [95%CI 1.01 to 11.22] | 0.0479 | |
Well-defined autoinflammatory disease | Transcription factor pathway | 4.50 [95%CI 1.04 to 19.47] | 0.0441 |
Deletion of chromosome 7 | 6.13 [95%CI 1.16 to 32.33] | 0.0325 | |
Number of mutations | 3.39 [95%CI 1.08 to 10.66] | 0.0441 | |
Unspecified inflammatory state | Deletionof chromosome 5 | 3.57 [95%CI 1.02 to 12.48] | 0.0465 |
O15 A novel MEFV mutation associated with an autosomal dominant FMF complicated by AA amyloidosis in a large British kindred
Dorota Rowczenio, Taryn Youngstein, Hadija Trojer, Charalampia Papadopoulou, Tamer Rezk, Philip Hawkins, Helen Lachmann
National Amyloidosis Centre, UCL, London, United Kingdom
Oral communications – Immunology
O16 PYRIN inflammasome dysregulation in FMF patients: implication for a fast diagnostic test
Thomas Henry, Flora Magnotti, Alexandre Belot, Yvan Jamilloux
Inserm U1111, CNRS UMR5308, Univ. Lyon, ENS Lyon, CIRI, Lyon, France
O17 Unraveling the molecular pathogenesis of proteasome-associated autoinflammatory syndromes
Frédéric Ebstein1, Anja Brehm2, Sébastien Küry3, Thomas Besnard3, Bertrand Isidor3, Stéphane Bézieau3, Pawel Stankiewicz4, Elke Krüger1
1Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald; 2Institut für Biochemie, Charité Universitätsmedizin Berlin, Berlin, Germany; 3Service de Génétique Médicale, CHU de Nantes, Nantes, France; 4Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States
O18 A novel knock-in mouse model of CAPS that develops amyloidosis: therapeutic efficacy of proton pump inhibitors
Arinna Bertoni1, Sonia Carta2, Chiara Baldovini3, Federica Penco1, Enrica Balza2, Silvia Borghini4, Marco Di Duca4, Emanuela Ognio5, Paolo Nozza3, Francesca Schena1, Patrizia Castellani2, Claudia Pastorino1, Carola Perrone1, Laura Obici6, Alberto Martini7, Isabella Ceccherini4, Marco Gattorno1, Anna Rubartelli2, Sabrina Chiesa1
1Centro Malattie Autoinfiammatorie ed Immunodeficienze, IRCCS Istituto G. Gaslini; 2Unità di Biologia Cellulare, IRCCS Ospedale Policlinico San Martino; 3Anatomia Patologica; 4Genetica Medica, IRCCS Istituto G. Gaslini; 5S.S Animal Facility, IRCCS Ospedale Policlinico San Martino, Genova; 6Centro per lo Studio e la Cura delle Amiloidosi Sistemiche, Fondazione IRCCS Policlinico San Matteo, Pavia; 7Direzione Scientifica, IRCCS Istituto G. Gaslini, Genova, Italy
O19 T cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency
Immacolata Brigida1, Matteo Zoccolillo1,4, Maria Pia Cicalese1,2,3, Laurène Pfajfer5-9, Federica Barzaghi2,4, Serena Scala1, Carmen Oleaga-Quintas10,11, Jesus A. Alvarez12, Lucia Sereni1, Stefania Giannelli1, Claudia Sartirana1, Francesca Dionisio1, Luca Pavesi13, Marta Benavides-Nieto14,15, Luca Basso-Ricci1, Paola Capasso1, Benedetta Mazzi16, Jeremie Rosain10,11,28, Nufar Marcus17, Yu Nee Lee18, Raz Somech18, Massimo Degano19, Giuseppe Raiola20, Roberta Caorsi21, Paolo Picco21, Marcela Moncada Velez12, Joelle Khourieh11,12, Andrés Augusto Arias12,29, Aziz Bousfiha22, Thomas Issekutz23, Andrew Issekutz23, Bertrand Boisson11,12,24, Kerry Dobbs25, Anna Villa1,26, Angelo Lombardo1,3, Benedicte Neven14, Despina Moshous14,15, Jean-Laurent Casanova11,12,14,24,27, José Luis Franco12, Luigi D Notarangelo25, Cristina Scielzo13, Stefano Volpi21,30, Loïc Dupré5-9, Jacinta Bustamante11,12,24,28, Marco Gattorno21,31‡, and Alessandro Aiuti1,2,3‡
1San Raffaele Telethon Institute for Gene Therapy, SR-TIGET; 2Pediatric Immunohematology, San Raffaele Scientific Institute, Milan; 3Vita-Salute San Raffaele University, Milan, Italy; 4Department of Systems Medicine, Tor Vergata University, Rome, Italy; 5INSERM, UMR1043, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; 6CNRS, UMR5282, Toulouse, France; 7Université Toulouse III Paul-Sabatier, Toulouse, France; 8Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; 9CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; 10Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France, EU; 11Paris Descartes University, Imagine Institute, 75015 Paris, France, EU; 12Group of Primary Immunodeficiencies, Department of Microbiology & Parasitology, School of Medicine, University of Antioquia UdeA, Medellin, Colombia; 13Division of Experimental Oncology, Unit of B-cell Neoplasia, San Raffaele Scientific Institute, Milan; 14Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France, EU; 15Genome Dynamics in the Immune System, Université Paris Descartes – Sorbonne Paris; 16Immunogenetics Laboratory, HLA & Chimerism, Dept. of Immunohematology & Blood Transfusion, IRCCS Ospedale San Raffaele, Milano, Italy; 17Kipper Institute for Allergy and Immunology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel, affiliated with Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 18Pediatric Department A and the Immunology Services, “Edmond and Lily Safra” Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer affiliated with Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 19Division of Immunology, Transplantation, and Infectious Diseases, Biocrystallography Unit. San Raffaele Scientific Institute, Milan; 20Unità Operativa di Pediatria, Azienda Ospedaliera “Pugliese-Ciaccio” di Catanzaro; 21U.O. Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy; 22Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco; 23Department of Pediatrics & Department of Microbiology-Immunology, Dalhousie University, Halifax, Nova Scotia, Canada; 24St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; 25Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, USA; 26Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Milan Unit, Milan, Italy; 27Howard Hughes Medical Institute, NY, USA; 28Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France, EU; 29School of Microbiology, University of Antioquia UdeA, Medellin, Colombia; 30Università degli Studi di Genova, Genova, Italy; 31UOSD Centro Malattie e Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genova, Italy
O20 B cell defect in ADA2 deficiency patients
Francesca Schena1, Federica Penco1, Stefano Volpi1,2, Claudia Pastorino1, Roberta Caorsi1, Arinna Bertoni1, Francesca Kalli3, Daniela Fenoglio3,4,5, Annalisa Salis6, Ignazia Prigione1, Paola Bocca1, Francesca Antonini7, Antonella Insalaco8, Alice Grossi9, Gianluca Damonte6, Isabella Ceccherini9, Gilberto Filaci3,4,5, Alberto Martini1,2, Elisabetta Traggiai10, Marco Gattorno1
1UOSD Centro Malattie Autoinfiammatorie e Immunodeficienze and Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini; 2Università degli studi di Genova; 3Center of Excellence for Biomedical Research; 4Department of Internal Medicine, Clinical Immunology Unit, Università di Genova; 5Ospedale Policlinico San Martino; 6Department of Experimental Medicine and Center of Excellence for Biomedical Research, Università di Genova; 7Core Facilities Flow-Cytometry and Cell imaging Lab, Istituto Giannina Gaslini, Genova; 8Division of Rheumatology, Department of Pediatric Medicine, IRCCS, Bambino Gesù Children’s Hospital, Roma; 9Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy; 10Novartis Institutes for Biomedical Research, Basel, Switzerland
O21 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome and obstructive sleep apnea are distinct inflammatory disorders of oropharyngeal lymphoid tissue
Kalpana Manthiram1, Silvia Preite2, Fatma Dedeoglu3, Maranda Lawton3, Pamela Mudd4, Hemalatha Srinivasalu4, Greg Licameli3, Kathryn Edwards5, Pamela Schwartzberg2, Daniel Kastner1
1National Human Genome Research Institute; 2National Institute of Allergy and Infectious Diseases, NIH, Bethesda; 3Boston Children’s Hospital, Harvard Medical School, Boston; 4Children’s National Medical Center, George Washington University School of Medicine, Washington; 5Vanderbilt University School of Medicine, Nashville, United States
O22 PFAPA syndrome: NK cells infiltrating tonsils support the crucial role of innate immunity in the pathogenesis
Sabrina Chiesa1, Roberta Caorsi2, Francesca Bellora3, Mariella Della Chiesa3, Ilaria Ingrosso1, Federica Penco1, ArinnaBertoni1, Claudia Pastorino1, Ignazia Prigione1, Alessia Omenetti2, Martina Finetti2, Silvia Borghini4, Angela Sementa5, Roberto D’Agostino6, LuciaSemino6, Alberto Martini7, Cristina Bottino3, Marco Gattorno1
1Centro Malattie Autoinfiammatorie e Immunodeficienze; 2Clinica Pediatrica e Reumatologica, IIRCCS G. Gaslini; 3Medicina Sperimentale, University of Genoa; 4Laboratorio di Genetica Molecolare; 5Anatomia Patologica; 6UO Otorinolaringoiatria, IIRCCS G. Gaslini; 7Clinica Pediatrica e Reumatologica, University of Genoa, Genova, Italy
Novel AID pathways and genes
O23 Identification of rare coding variants in IL-1-related pathways in patients with adult-onset still’s disease
Giulio Cavalli1,2, Rosanne Van Deuren2, Peer Arts2, Marloes Steerhower2, Paolo Sfriso3, Paola Galozzi3, Serena Colafrancesco4, Roberta Priori4, Luca Cantarini5, Stefano Rodolfi1, Elena Baldissera1, Frank van der Veerdonk2, Lorenzo Dagna1, Alexander Hoischen2, Charles A. Dinarello2,6
1Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UniRAR), Vita-Salute San Raffaele University, Milan, Italy; 2Department of Medicine, Radboud University Medical Centre, Nijmegen, Netherlands; 3Rheumatology, University of Padua, Padua; 4Rheumatology, Sapienza University, Rome; 5Rheumatology, University of Siena, Siena; 6Department of Medicine, University of Colorado Denver, Aurora, CO, Italy
O24 Trisomy 8-associated autoinflammatory disease (TRIAD) is characterized by increased monocyte activation
Kalpana Manthiram1, Alina Dulau-Florea2, Deborah Bruns3, Amanda Ombrello1, Karyl Barron4, Tina Romeo1, Anne Jones1, Karin Weiss1, Sandro Perazzio5, Isabelle Kone-Paut6, Nora Al-Mutiari7, Troy Torgerson5, Daniel Kastner1
1National Human Genome Research Institute; 2Department of Laboratory Medicine, NIH, Bethesda; 3Department of Counseling, Quantitative Methods, and Special Education, Southern Illinois University Carbondale, Carbondale; 4National Institute of Allergy and Infectious Diseases, NIH, Bethesda; 5Department of Pediatrics, University of Washington School of Medicine, Seattle, United States; 6Bicêtre University Hospital, APHP, CEREMAIA, University of Paris Sud, Paris, France; 7Department of Pediatrics, Sabah Hospital, Kuwait City, Kuwait
Deficiencies in key regulatory signals
O25 A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
Stefano Volpi1,2, Maria Pia Cicalese3, Paul Tuijnenburg4,5, Anton T. J. Tool6, Eloy Cuadrado7, Hamid Ahanchian8, Raed Alzyoud9, Zeynep C. Akdemir10, Federica Barzaghi11, Alexander Blank12, Bertrand Boisson13, Cristina Bottino14, Roberta Caorsi15, PaoloPicco15, Jean-Laurent Casanova13,16, Sabrina Chiesa17, Ivan Kingyue Chinn18, Gregor Dückers19, Anselm Enders20, Hans Christian Erichsen21, LisaR. Forbes18, Tomasz Gambin22,23, Marco Gattorno24, Ehsan G. Karimiani25, Silvia Giliani26, Michael S. Gold27, Marwan Abu-Halaweh28, Eva-Maria Jacobsen12, Machiel H. Jansen29,30, Jovanka R. King27, Ronald M. Laxer31, James R. Lupski22,32, Emily Mace18, Stefania Marcenaro33, Reza Maroofian34, Alexander B. Meijer35, Tim Niehues19, Luigi D. Notarangelo36, Jordan Orange18, Ulrich Pannicke37, Chris Pearson38, Patrick J. Quinn27, Ansgar Schulz12, Filiz Seeborg18, Asbjørg Stray-Pedersen39, Hasan Tawamie40, Ester M. M. van Leeuwen30, Alessandro Aiuti11, Rae Yeung31,41, Klaus Schwarz37,42, Taco W. Kuijpers29,43
1Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini; 2DINOGMI, Università degli Studi di Genova, Genova; 3Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy; 4Department of Pediatric Immunology, Rheumatology and Infectious diseases, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam; 5Department of Experimental Immunology, Amsterdam Infection & Immunity Institute; 6Department of Blood Cell Research; 7Department of Immunopathology, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, Netherlands; 8Department of Allergy and immunology, School of medicine, Mashhad university of Medical Sciences, Mashhad, Iran, Islamic Republic Of; 9Immunology, Allergy and Rheumatology section- Bone Marrow Transplantation for Primary Immunodeficiency Disorders, Queen Rania Children's Hospital, Amman, Jordan; 10Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Huston, United States; 11Pediatric Immunohematology, San Raffaele Hospital and San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan, Italy; 12Department of Pediatrics, University Medical Center Ulm, Ulm, Germany; 13St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States; 14Department of Experimental Medicine (DIMES), University of Genoa; 15Centro per le Malattie Infiammatorie e Immunodeficienze, Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy; 16Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, APHP, Paris, France; 17Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze Istituto Giannina Gaslini, Genova, Italy; 18Department of Pediatrics, Section of Allergy, Immunology, and Rheumatology & Center for Human Immunobiology, Texas Children's Hospital, Houston, United States; 19Center for Child and Adolescent Medicine, Helios-Clinic, Krefeld, Germany; 20Department of Immunology and Infectious Disease, John Curtin School of Medical Research and Centre for Personalised Immunology, Australian National University, Canberra, Australia; 21Section of Paediatric Medicine and Transplantation, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, oslo, Norway; 22Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States; 23Institute of computer science, Warsaw University of Technology, Warsaw, Poland; 24. Clinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze Istituto Giannina Gaslini, Genova, Italy; 25Molecular and Clinical Sciences Institute, St. George’s, University of London, Cranmer Terrace, London, United Kingdom; 26Medical Genetics Unit and “A. Nocivelli” Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; 27Discipline of Pediatrics, School of Medicine, University of Adelaide and Department of Allergy and Clinical Immunology, Women's and Children's Health Network, Adelaide, Australia; 28Department of Biotechnology and Genetics Engineering in Philadelphia University, Jordan, United States; 29Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases; 30Amsterdam UMC, University of Amsterdam, Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Amsterdam, Netherlands; 31Division of Rheumatology, Department of Paediatrics and Department of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Canada; 32Department of Pediatrics, Baylor College of Medicine, Houston, United States; 33Istituto Giannina Gaslini, Genova, Italy; 34Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter and Genetics and Molecular Cell Sciences Research Centre, St George's University of London, London, United Kingdom; 35Department of Plasma proteins, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, Netherlands; 36Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, United States; 37Institute for Transfusion Medicine, University Ulm, Ulm, Germany; 38Department of General Medicine, Women's and Children's Health Network, Adelaide, Australia; 39Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; 40The Institute of Human genetics of Leipzig, Leipzig, Germany; 41Departments of Paediatrics, Immunology, Institute of Medical Science, University of Toronto, Cell Biology Program, The Hospital for Sick Children, Toronto, Canada; 42Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg – Hessen, Ulm, Germany; 43Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, Netherlands
O26 ARPC1B-deficiency causes defective cell migration, loss of actin polymerization and hyperresponsiveness in zebrafish and patient-derived cells
Gabriella Leung1,2, Aleixo M. Muise2,3
1Cell Biology; 2Gastroenterology, Hepatology and Nutrition; 3Inflammatory Bowel Disease Centre, Hospital for Sick Children, Toronto, ON, Canada
Nucleic acid sensing and interferon
O27 Heterozygous mutations in COPA are associated with enhanced type I interferon signalling
Marie-Louise Frémond1, Alice Lepelley1, Carolina Uggenti2, Maria José Martin-Niclos1, Marine Depp2, Vincent Bondet3, Darragh Duffy3, Gillian I. Rice4, Mary Brennan5, Caroline Thumerelle6, Siham Boulisfane6, Marie Legendre7, Serge Amselem7, Thierry Molina8, Nadia Nathan9, Yanick J. Crow2
1Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France; 2Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom; 3Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France; 4Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Manchester; 5Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Edinburgh, United Kingdom; 6Pediatrics Department, CHRU de Lille, Lille; 7Genetic Department and Inserm UMR S933, Trousseau Hospital-APHP and Sorbonne Université; 8Pathology Department, Necker Hospital-APHP; 9Inserm UMR S933 and Pediatric Pulmonology department and Reference Centre for Rare Lung Diseases, RespiRare, Trousseau Hospital-APHP and Sorbonne Université, Paris, France
O28 Sting-associated vasculopathy in mice requires adaptive immunity but not cGAS or type I interferon
Hella Luksch1, Angela Rösen-Wolff1, Alexander Gerbaulet2, W. Alexander Stinson3, Brock G. Bennion3, Gowri Kalugotla4, Wei Qian3, Catherine A. Miner4, Jonathan Miner5
1Department of Pediatrics, University Clinic Carl Gustav Carus, TU Dresden; 2Department of Immunology, Faculty of Medicine,TU Dresden, Dresden, Germany; 3Department of Pathology and Immunology; 4Department of Medicine, Washington University School of Medicine; 5Departments of Pathology and Immunology, Medicine and Molecular Microbiology, Washington University School of Medicine, Saint Louis, St. Louis, United States
New frontiers in the treatment of SAID
O29 Preclinical studies of gene therapy for deficiency of adenosine deaminase type 2 (DADA2)
Ying Hong, Marina S. Casimir, Barbara Jensen, Benjamin Houghton, Adrian Thrasher, Paul Brogan, Despina Eleftheriou
Infection, immunity and inflammation, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
O30 Experience with and management of HLH-like toxicities following chimeric antigen receptor T-cell therapy for treatment of relapsed/refractory pre-B ALL
Amanda K. Ombrello1, Bonnie Yates2, Haneen Shalabi2, Terry J. Fry3, Nirali N. Shah2
1NHGRI; 2NCI, NIH, Bethesda; 3Children's Hospital of Colorado, Denver, United States
Inflammatory Marker | No HLH, median (25-75% IQR) | HLH, median (25-75% IQR) | p value (1- tailed) |
---|---|---|---|
Ferritin* | 22758 (3554-52686) | 206740 (171968-420273) | <0.0001 |
Cytokines* (pg/mL) | |||
IFNy | 352.2 (196.7-1041) | 2800 (1838-2900) | <0.0001 |
IL-1B | 0.77 (0.45-2.09) | 3.51 (1.02-48.95) | 0.001 |
IL-6 | 41.58 (18.83-214.5) | 904.5 (264.1-1480) | <0.0001 |
IL-10 | 55.94 (22.02-154) | 338.7 (128.1-567.4) | 0.0001 |
TNFa | 12.77 (9.17-23.62) | 27.1 (16.2-43.91) | 0.002 |
MIP-1a | 105.7(67.12-180.1) | 223.8 (157-422.2) | 0.0001 |
Novel targets and therapies in autoinflammation
O31 Novel NLRP3 targeted therapy in caps
Laela M. Booshehri1, Matthew McGeough1, Ben Keer1, Milos Lazic2, Christopher McBride2, Davide Povero2, James Veal2, Gretchen Bain2, Hal M. Hoffman1
1Pediatrics, University of California San Diego, La Jolla; 2Jecure Therapeutics, San Diego, United States
O32 Preclinical efficacy of NLRP3 small molecule inflammasome inhibitors: implications for future treatment of autoinflammatory syndromes
Angela Abad-Perez1, Stefan Frischbutter1,2, Niklas A. Mahnke1, Jens v. Kries3, Marc Nazaré4, Marcus Maurer1, Jörg Scheffel1,2, Karoline Krause1,2
1Department of Dermatology, Venereology and Allergology; 2Autoinflammation Reference Center Charité (ARC2), Charité Universitätsmedizin Berlin; 3Screening Unit Cell Biology and High Content Screen; 4Medicinal Chemistry, Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany
Oral communications – new diseases
O33 Biallelic loss of function mutations in sharpin cause autoinflammation
Hirotsugu Oda1, David Beck1, Kalpana Manthiram1, Hye Sun Kuehn1, Natalia Sampaio Moura1, Rao Anand2, Mariana Kaplan1, Douglas Kuhns3, Wanxia Li Tsai1, Hiroyuki Yoshitomi4, Junya Toguchida4, Gustavo Gutierrez-Cruz1, Jeremy Davis1, Massimo Gadina1, Jennifer Stoddard1, Kazuhiro Iwai4, Sergio Rosenzweig1, Luigi Notarangelo1, Daniel L. Kastner1, Ivona Aksentijevich1
1NIH, Bethesda, United States; 2Manipal Hospital, Bangalore, India; 3NIH, Frederick, United States; 4Kyoto University, Kyoto, Japan
O34 A loss-of-function mutation in USP43, a deubiquitinase gene, is linked to an interferon-mediated autoinflammatory disorder with proteasome defects
Hongying Wang1, Qing Zhou1, Anna Kozlova2, Vasili Burlakov2, Daniel Kastner1, Ivona Aksentijevich1, Anna Shcherbina2
1Inflammatory Disease Section, National Human Genome Research Institute (NHGRI) / NIH, Bethesda, United States; 2National Research and Practical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
O35 A novel autoinflammatory disease characterized by neonatal-onset cytopenia with autoinflammation, rash, and hemophagocytosis (NOCARH) due to aberrant CDC42 function
Michael T. Lam1,2,3, Simona Coppola4, Oliver H. Krumbach5, Giusi Prencipe6, Antonella Insalaco6, Cristina Cifaldi7,8, Immacolata Brigida9, Serena Scala9, Marcello Niceta10, Andrea Ciolfi10, Alexandre F. Carisey1,2, Mohammad Akbarzadeh5, Andrea Finocchi7,8, Franco Locatelli11, Caterina Cancrini7,8, Alessandro Aiuti9,12,13, Mohammad R. Ahmadian5, Jordan S. Orange2, Fabrizio De Benedetti6, Marco Tartaglia10
1Department of Pediatrics, Baylor College of Medicine, Houston; 2Department of Pediatrics, Columbia University, Irving Medical Center, New York; 3Translational Biology and Molecular Medicine Graduate Program and Medical Scientist Training Program, Baylor College of Medicine, Houston, United States; 4National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; 5Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf, Germany; 6Division of Rheumatology; 7Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, IRCCS; 8Department of Systems Medicine, University of Rome Tor Vergata, Rome; 9San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan; 10Genetics and Rare Diseases Research Division; 11Department of Pediatric Hematology and Oncology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome; 12Pediatric Immunohematology, San Raffaele Scientific Institute; 13Vita Salute, San Raffaele University, Milan, Italy
Outcome and status | Patient 1 | Patient 2 | Patient 3 |
---|---|---|---|
Alive, 6 yrs | Dead, 6 mos | Dead, 1.5yrs | |
Fever | + | + | + |
Skin rash | + | + | + |
Hepato-Splenomegaly | + | + | + |
Hemophagocytic lymphohistiocytosis | + | + | + |
Gastrointestinal symptoms | + | + | + |
Cytopenia | + | + | + |
Acute phase response | + | + | + |
Bone marrow dysplasia | + | + | + |
O36 PSMB10, The last immunoproteasome gene missing for PRAAS (Proteasome-Associated Autoinflammatory Syndrome)
Guillaume Sarrabay1,2, Déborah Méchin1,2, Aicha Salhi3, Guilaine Boursier1, Cécile Rittore1, Yanick Crow4, Gillian Rice5, Tu-Ahn Tran2,6,7, Renaud Cezar7, Darragh Duffy8, Vincent Bondet8, Lakhtar Boudehane9, Sylvie Grandemange1,2, Florence Apparailly2, Isabelle Touitou1,2
1Department of Medical Genetics, Rare diseases and Personalized medicine, Rare and Autoinflammatory diseases unit; 2IRMB, INSERM, CHU Montpellier, Univ Montpellier, Montpellier, France; 3Dermatology department, Alger medicine University, Alger, Algeria; 4Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris Descartes University, Paris, France; 5Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; 6Paediatrics department, University Hospital Nimes; 7Immunology department, CHU Nîmes, Univ Montpellier, Nîmes; 8ICD Unit, Inserm U1223, Institut Pasteur, Paris, France; 9Paediatrician office, Liberal, Sétif, Algeria
O37 WNT6 mutation causes an early onset granulomatosus intestinal disease with recurrent hemophagocytic lymphohistiocytosis (HLH)
Claudia Bracaglia1, Daniela Knafelz2, Fiammetta Bracci2, Antonella Insalaco1, Giulia Marucci1, Manuela Pardeo1, Giusi Prencipe1, Ivan Caiello1, Antonia Pascarella1, Marcello Niceta3, Francesca Pantaleoni3, Andrea Ciolfi3, Bronislava Papadatou2, Marco Tartaglia3, Giuliano Torre2, Fabrizio De Benedetti1
1Division of Rheumatology; 2Hepatology, Gastroenterology and Nutrition Unit; 3Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
O38 NFIL3 mutations alter immune homeostasis and sensitize for arthritis pathology
Stephanie Humblet-Baron1, Susan Schlenner2, Emanuela Pasciuto2, Vasiliki Lagou1, Oliver Burton2, Teresa Prezzemolo1, Steffie Junius1, Carlos Roca1, Cyril Seillet3, Cynthia Louis3, James Dooley1, Kylie Luong3, Erika Van Nieuwenhove1, Ian P Wicks3, Gabrielle Belz3, Adrian Liston1, Carine Wouters4
1Immunology and Microbiology, Center for Brain and disease research, KU Leuven-VIB; 2Immunology and Microbiology, Center for Brain and disease research, KU Leuven - VIB, LEUVEN, Belgium; 3Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; 4KU Leuven and University Hospitals Leuven, LEUVEN, Belgium
O39 EROS/CYBC1 mutations: a novel cause of chronic granulomatous disease and more
David C. Thomas1, Louis M. Charbonnier2, Andrea Schejtman3, Hasan Aldhekri4, Eve Coomber5, Elizabeth Dufficy6, Anne Beenken1, James Lee1, Simon Clare7, Anneliese Speak7, Adrian Thrasher8, Giorgia Santilli8, Hamoud Al-Mousa9, Fowzan Alkuraya10, Talal Chatila11, Kenneth Smith1
1Department of Medicine, University of Cambridge, Cambridge, United Kingdom; 2Paediatrics, Harvard, Boston, United States; 3University College London, London, United Kingdom; 4Department of Paediatrics,King Faisal Specialist Hospital and Research Center , Riyadh, Saudi Arabia; 5Wellcome Trust Sanger Institute, Cambridge; 6Medicine, University of Cambridge, Camridge; 7WTSI, Cambridge; 8Institute of Child Health, UCL, London, United Kingdom; 9Paediatrics; 10Genetics, KFSH, Riyadh, Saudi Arabia; 11Paediatrics, Harvard University, Boston, United States
O40 Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
Jörg Scheffel1, Niklas Mahnke1, Zonne Hofman2, Steven de Maat2, Jim Wu1, Hanna Bonnekoh1, Reuben Pengelly3, Sarah Ennis3, John Holloway3, Martin Church1, Marcus Maurer1, Coen Maas2, Karoline Krause1
1Charite - Universitaetsmedizin Berlin, Berlin, Germany; 2University Medical Center Utrecht, Utrecht, Netherlands; 3University of Southampton, Southampton, United Kingdom
Poster presentations – Monday 1 April
Guided poster tour 1A
PT1A01 Multi-omics analysis of ADA2 deficiency in Japanese cohort
Hiroshi Nihira1, Kazushi Izawa1, Takahiro Yasumi1, Moeko Ito2, Sachiko Iwaki-Egawa2, Yoji Sasahara3, Hirokazu Kanegane4, Tadateru Yasu5, Tomohiro Kubota6, Syuji Takei6, Dai Keino7, Etsuro Nanishi8, Hidetoshi Takada9, Shoichi Ohga8, Syunsuke Kajikawa10, Makio Takahashi11, Naoko Nakano12, Osamu Ohara13, Toshio Heike14, Junko Takita1, Ryuta Nishikomori1
1Pediatrics, Kyoto University, Kyoto; 2Life Sciences, Hokkaido University of Science, Sapporo; 3Pediatrics, Tohoku University, Sendai; 4Pediatrics, Tokyo Medical and Dental University, Tokyo; 5Pediatrics, Nagasaki Medical Center, Omura; 6Pediatrics, Kagoshima University, Kagoshima; 7Pediatrics, St. Marianna University, Kawasaki; 8Pediatrics, Kyusyu University, Fukuoka; 9Pediatrics, Tsukuba University, Tsukuba; 10Neurology, Kyoto University, Kyoto; 11Neurology, Osaka Red Cross Hospital, Osaka; 12Pediatrics, Ehime University, Toon; 13Applied Genomics, Kazusa DNA Research Institute, Kisarazu; 14Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Japan
PT1A02 The clinical and immunological profiles of haploinsufficiency of A20 in Japan
Hidenori Ohnishi1, Tomonori Kadowaki1, Norio Kawamoto1, Tomohiro Hori1, Kenichi Nishimura2, Chie Kobayashi3, Tomonari Shigemura4, Shohei Ogata5, Yuzaburo Inoue6, Tomoki Kawai7, Eitaro Hiejima7, Kazushi Izawa7, Tadashi Matsubayashi8, Kazuaki Matsumoto9, Masatoshi Takagi9, Kohsuke Imai9, Ryuta Nishikomori7, Shuichi Ito2, Toshio Heike7, Osamu Ohara10, Tomohiro Morio11, Hirokazu Kanegane12, Toshiyuki Fukao1
1Pediatrics, Gifu University Graduate School of Medicine, Gifu; 2Pediatrics, Yokohama City University, Kanagawa; 3Child Health, Faculty of Medicine, University of Tsukuba, Ibaraki; 4Pediatrics, Shinshu University School of Medicine, Matsumoto; 5Pediatrics, Kitasato University Hospital, Kanagawa; 6Allergy and Rheumatology, Chiba Children’s Hospital, Chiba; 7Pediatrics, Kyoto University Hospital, Kyoto; 8Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka; 9Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo; 10Applied Genomics, Kazusa DNA Research Institute, Chiba; 11Pediatrics and Developmental Biology; 12Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
PT1A03 Use of SIGLEC1/CD169 as a biomarker for monogenic interferonopathies
Banu Orak1,2, Axel Panzer3, Manuela Theophil3, Elke Krüger4, Frédéric Ebstein4, Barbara Zieba4, Nadine Unterwalder5, Christian Meisel5, Tilmann Kallinich2
1Center for chronically sick children, Charité University Medicine Berlin; 2Department of Pediatrics, Division of Pneumology, Immunology with intensive Medicine, Charité University Medicine Berlin; 3Pediatric Neurology, DRK Klinikum Berlin-Westend, Berlin; 4Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald; 5Department of Immunology, Labor Berlin GmbH, Berlin, Germany
PT1A04 Screening of patients with idiopathic polyarteritis nodosa, granulomatosis with polyangiitis, and microscopic polyangiitis for deficiency of adenosine deaminase 2
Oskar Schnappauf1, Monique Stoffels2, Ivona Aksentijevich1, Amanda Ombrello1, Natalia Sampaio Moura1, Karyl Barron1, Daniel Kastner1, Peter Grayson3, Peter Merkel4, on behalf of Vasculitis Clinical Research Consortium
1National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH); 2National Human Genome Research Institute (NHGRI), National Institutes of Health; 3National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda; 4Division of Rheumatology and the Department of Biostatistics, Epidemiology, and Informatics (DBEI), University of Pennsylvania, Philadelphia, United States
PT1A05 Diagnosis and long term management of type I interferonopathies in a pediatric rheumatology center
Stefano Volpi1,2, Elettra Santori3, Margherita Ricci1, Paolo Picco1, Alessandra Tesser4, Gillian I. Rice5, Roberta Caorsi1, Alice Grossi6, Isabella Ceccherini6, Alberto Martini2, Yanick J. Crow7,8, Alberto Magnasco9, Alberto Tommasini4, Fabio Candotti3, Marco Gattorno1
1Centro per le Malattie Infiammatorie e Immunodeficienze, Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini; 2DINOGMI, Università degli Studi di Genova, Genova, Italy; 3Allergy and Immunology, Lausanne University Hospital, Lausanne, Switzerland; 4IRCCS Buro Garofalo, Trieste, Italy; 5Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; 6UOC Genetica Medica e UOSD Genetica e Genomica delle Malattie Rare, Istituto Giannina Gaslini, Genova, Italy; 7Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom; 8Institute Imagine, University Paris Decartes, Paris, France; 9Nephrology, Dialysis, Transplantation Unit, Istituto Giannina Gaslini, Genova, Italy
PT1A06 Results of international Delphi survey for the diagnosis, investigation and management of deficiency of ADA2
Taryn A.-B. Youngstein1, Eugene P. Chambers2, on behalf of DADA2 Foundation, Helen J. Lachmann1, DADA2 Delphi Study Participants
1National Amyloidosis Centre, UCL Division of Medicine, London, United Kingdom; 2Vanderbilt University Medical Centre, Vanderbilt University, Nashville, United States
PT1A07 Somatic mutations in the NLRP3-inflammasome gene in late adulthood-onset chronic urticaria
Eman Assrawi1, Camille Louvrier1, Fawwaz Awad1, Clemence Lepelletier2, JD Bouaziz2, William Piterboth1, Florence Moinet3, Philippe Moguelet4, Claire Jumeau1, Laetitia Cobret1, Elma El-Khouri1, Philippe Duquesnoy1, Marie Legendre1, Sophie Georgin-Lavialle5, Gilles Grateau5, Sonia Athina Karabina1, Serge Amselem1, Irina Giurgea1
1Sorbonne Université, inserm UMRS 993; 2Hôpital Saint-Louis , Service de Dermatologie, Paris; 3Centre Hospitalier Universitaire de Martinique, Service de médecine interne, Martinique; 4Hôpital Tenon , Anatomie et cytologie pathologiques; 5Hôpital Tenon, Service de médecine interne, Paris, France
PT1A08 Idiopathic recurrent pericarditis: clinical findings and treatment approach
Camilla Celani1, Silvia Federici1, Anna Tulone1, Brigitte Bader Meunier2, Virginia Messia1, Manuela Pardeo1, Claudia Bracaglia1, Pierre Quartier Dit Maire2, Fabrizio De Benedetti1, Antonella Insalaco1
1Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy; 2Unité d’Immunologie-Hématologie et Rhumatologie pédiatrique, Hôpital Necker-Enfants, Paris, France
Guided poster tour 1B
PT1B01 Monocytes proteomic profile of patients with different autoinflammatory diseases: a new approach to characterize these diseases
Federica Penco1, Andrea Petretto2, Chiara Lavarello2, Ilaria Gueli3, Arinna Bertoni1, Alessia Omenetti3, Claudia Pastorino1, Marco Gattorno1
1Centro Malattie Autoinfiammatorie ed Immunodeficienze; 2Laboratorio Core Facilities - Proteomica e Metabolomica Clinica; 3Clinica Pediatrica e Reumatologica, Istituto Giannina Gaslini, Genova, Italy
PT1B02 Prulipotent stem cell derived myeloid cell lines for dissecting the mechanism of autoinflammation
Megumu Saito
Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan
PT1B03 Loss of protein prenylation in human monocytes promotes the formation of an NLRP3-dependent inflammasome in a model of mevalonate kinase deficiency
Oliver Skinner1, Julie Jurczyluk1,Paul Baker2, Seth Masters2, Avril Robertson3, Kate Schroder4, Sam Mehr5, Marcia Munoz1, Michael Rogers1
1Bone Biology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney; 2Inflammation Division, Walter and Eliza Hall Institute of Medical Research, Melbourne; 3School of Chemistry and Molecular Biosciences; 4Institute of Molecular Bioscience, University of Queensland, Brisbane; 5Dept of Allergy/Immunology, Royal Children's Hospital, Melbourne, Australia
PT1B04 Performance of targeted NGS for routine diagnosis of autoinflammatory diseases
Guilaine Boursier1, Cécile Rittore1, Déborah Méchin2, Muriel Gutierrez1, Florian Milhavet1, Guillaume Sarrabay2, Isabelle Touitou2
1Department of Medical Genetics, Rare diseases and personalized medicine, Rare and autoinflammatory diseases unit, CHU Montpellier, Univ Montpellier; 2IRMB, INSERM, Univ Montpellier, Department of Medical Genetics, Rare diseases and personalized medicine, Rare and autoinflammatory diseases unit, CHU Montpellier, Montpellier, France
PT1B05 Late-onset TRAPS with low-grade mosaicism in TNFRSF1A
Barend P. Kant1, Marco J. Koudijs1, Ruben van‘t Slot2, Joyce van Kuik3, Lisanne M. Sikkema1, Joost Frenkel4, Anna Simon5, Mariëlle E. van Gijn1
1Department of Genetics; 2Center for Molecular Medicine; 3Department of Pathology; 4Department of Pediatrics, University Medical Center Utrecht, Utrecht; 5Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, Netherlands
PT1B06 Heterozygous TNFAIP3 mutation as the cause of an interferon-mediated neuroinflammatory disorder
Ciara M. Mulhern1, Ying Hong1, Ebun Omoyinmi1, Dara McCreary1, Marina Casimir1, Cheryl Hemingway2, Felice D’Arco2, Paul Brogan1, Despina Eleftheriou1
1Infection, Inflammation and Rheumatology, Great Ormond Street Institute of Child Health; 2Neurology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom
PT1B07 Systemic evaluation of genetic and biochemical testing for deficiency of ADA2 (DADA2) from the NIH patient cohort
Natalia Sampaio Moura, Oskar Schnappauf, Natalie Deuitch, Qing Zhou, Daniel Kastner, Ivona Aksentijevich
Inflammatory Disease Section, National Institutes of Health, Bethesda, United States
Monogenic autoinflammatory diseases (clinical)
P1001 Is there any difference between M694V heterozygote and non-exon 10 mutations on symptoms onset and response to colchicine treatment?
Hatice Adiguzel Dundar1, Serkan Turkucar1, Ceyhun Acari1, Ozge Altug Gucenmez2, Balahan Makay2, Erbil Unsal1
1Department of Pediatrics, Pediatric Rheumatology Unit, Dokuz Eylul University Faculty of Medicine; 2Pediatric Rheumatology Unit, Dr. Behcet Uz Childrens’ Hospital, Izmir, Turkey
P1002 A case report of aicardi goutieres syndrome type 5 in two siblings mimicking juvenile idiopathic arthritis
Buthaina Al Adba1, Hajar Dauleh2
1Paediatric Rheumatology; 2Paediatric, Sidra Medicine, Doha, Qatar
P1003 Phenotypic and genotypic characteristics and damage accrual of monogenic autoinflammatory diseases other than familial Mediterranean fever from the pediatric rheumatology Arab group (PRAG)
Sulaiman Al-Mayouf1, Abdulaziz Almutairi1, Safia Albrawi2, Abdulatif AlEnazi3, Basil Fatallah4, Abdulallh Alsonbul1, Mohammed Abu-shukair5, Raed Alzyoud5, Adel Alwahadneh5, Mabruka Zlenti6, Ebtisam Kawaja6, Khloud Khawaja7, Zakia Almusawi8, Wafa Madan8, Muna AlMutairi9, Nora Almuatiri10 and Pediatric Rheumatology Arab Group (PRAG)
1King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; 2Royal Hospital, Muscat, Oman; 3King Fahad Medical City, Riyadh, Saudi Arabia; 4AlJalial Children Hospital, Dubai, United Arab Emirates; 5Queen Rania Children Hospital, Amman, Jordan; 6Tripoli Children Hospital, Tripoli, Libya; 7Mafraq Hospital, Abu Dhabi, United Arab Emirates; 8Salmaniya Hospital, Bahrain, Bahrain; 9Al Adan Hospital; 10AlSabah Hospital, Kuwait, Kuwait
P1004 Auto-inflammatory diseases: a retrospective single center study in Saudi Arabia
Abdulrahman A. Alrasheed1, Ashwag Al Harthi2, Banan Al Rewaithi2, Wafa Suwairi2, Jubran Al Qanatish2, Fayhan Al Roqi2
1King Abdullah Specialized Children Hospital; 2Pediatric, King Abdullah Specialized Children Hospital, Riyadh, Saudi Arabia
Disease | No. of patients | % | gene study | treatment and outcome |
---|---|---|---|---|
SoJIA | 31 | 46% | Negative HLH gene done for patients with MAS | good response to Anakinra or Tocilizumab |
CRMO | 10 | 15% | Negative geneexcept 1 patient with CRMO and Familial hyperphosphatemic tumoral calcinosis who has homozygous mutation in GALNT3 gene | 3 patients with mild CRMO responded to NSAIDs only. 2 patients required either pamidronate or Methotrexate. 4 patients required combination of Infliximab and Methotrexate. 1 patient who had unidentified auto- inflammatory disease responded partially to Abatacept but not to Anakinra, Adalimumab or Tocilizumab. |
FMF | 5 | 7% | Heterozygous mutation in MEFV gene (Met694Val) | Good response to Colchicine |
PFAPA | 5 | 8% | Negative periodic fever gene panel | 4 patients received no treatments with less frequent attacks during follow up and one free of attacks after tonsillectomy |
HIDS | 4 | 6% | Mutation in MVK gene | 3 patients treated with Anakinra showed good response 1 patient had infrequent attacks not on treatment |
NOMID | 2 | 3% | Negative gene | Good response to anti IL-1 therapy (Anakinra and Canakinumab) |
Interferonopathies | 2 SAVI 1 AGS | 5% | Mutation in TMEM-173 gene (STING gene) for SAVI and RNASEH2A for AGS | 1 SAVI patient treated with Ruxolitinib with significant improvement while the other died AGS treated with Ruxolitinib with good response |
DADA2 | 3 | 5% | mutation in CECR1 gene | 2 patients treated with adalimumab and GCSF with good response, and the 3rd patient recently diagnosed |
DITRA | 1 | 1% | mutation inIL36RN gene | Response was lost on etanercept, Anakinra and then Ustekinamab Currently on Adalimumab with no relapse so far |
Blau syndrome + crohn’s disease | 1 | 1% | mutations in NOD2/CARD15 gene | Treated with Azathioprine and steroid with partial response |
P1005 Clinical and genetic characteristics of myalgia in Armenian children with familial Mediterranean fever
Gayane G. Amaryan1, Tamara F. Sarkisian2, Nune G. Mkrtchyan3, Marina M. Papazyan4, Artashes E. Tadevosyan5
1National Pediatric Centre for Familial Mediterranean Fever of “Arabkir” Medical Centre - Institute of Child and Adolescent Health, Department of Pediatrics Yerevan State Medical University; 2Centre of Medical Genetics and Primary Health Care, Depatment of Medical Genetics Yerevan State Medical University; 3National Pediatric Centre for Familial Mediterranean Fever of “Arabkir” Medical Centre - Institute of Child and Adolescent Health, Department of Pediatrics Yerevan State Medical University; 4NationalPediatric Centre for Familial Mediterranean Fever, “Arabkir” Medical Centre - Institute of Child and Adolescent Health; 5Department of Public Health and Health Care Organization , Yerevan State Medical University, Yerevan, Armenia
P1006 The impact of aging on familial Mediterrinean fever patients
Okan Aydin1, Serdal Ugurlu1, Bugra Egeli2, Ece Soykut2, Deniz Demir2, Huri Ozdogan1
1Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty; 2University of Istanbul - Cerrahpasa, Istanbul, Turkey
n | Group 1* (n=61) | Group 2** (n=39) | p |
---|---|---|---|
Sex (F:M); current age (mean±SD) (yr) | (46 :15) ;45.5 ± 2.29 | (32:7); 57.05 ± 6.81 | 0,43;<0.001 |
Mean duration since the last episode, (mean±SD, mo) |
15.3 ± 19.7 (1-60)
|
35.67 ± 52.05 (1-276)
|
0,012
|
Number of patients on colchicine therapy, n (%) | 59 (96.7) | 38 (97.4) | NS |
Mean colchicine dose, mg/day (current) |
1.7±0.76
|
1.41±0.45
|
0.03
|
Number of patientswith decrease in attack severity, n (%) | 54(88,5) | 35 (89,7) | NS |
Number of patients with decrease in attackfrequency, n (%) | 57(93,4) | 37 (94,8) | NS |
Co-morbidities, n (%) | |||
Hypertension, n (%) | 12(19.6) | 13 (33.33) | NS |
Hypotyroidism, n (%) | 12(19,6) | 4(10,2) | NS |
Type 2 Diabetes Mellitus, n (%) | 5(8.2) | 5(12.82) | NS |
Rheumatological diseases, n (%) | 5(8,2) | 3(7,7) | NS |
Cardiac disease, n (%) | 3(4,9) | 2(5,1) | NS |
Malignancies, n (%) | 2(3,2) | 2(5.13) | NS |
Additionalmedications (number of patients, %) | 36 (61) | 29 (74.3) | NS |
P1007 Comorbidities in familial Mediterranean fever
Ummusen Kaya Akca1, Banu Balci Peynircioglu2, Zehra S. Arici1, Edibe Avci2, Zulfiye Y. Akkaya Ulum2, Engin Yilmaz2, Yelda Bilginer1, Seza Ozen1
1Pediatric Rheumatology; 2Medical Biology, Hacettepe University, Ankara, Turkey
P1008 Bone metabolism in systemic autoinflammatory diseases (SAIDS): a case- control study from Padova cohort
Sara Bindoli1, Giulio Franceschet2, Paola Galozzi1, Martina Zaninotto3, Valentina Camozzi2, Paolo Sfriso1
1Rheumatology Unit, Department of Medicine; 2Endocrinology Unit, Department of Medicine; 3Department of Laboratory Medicine, University of Padova, Padova, Italy
P1009 Two cases of hyperzincaemia/hypercalprotectinaemia show novel phenotypic properties
Anikó Szabó1, Péter Blazsó1, Viktória Sümegi2, Tibor Kalmár1, Zoltán Maróti1, Csaba Bereczki1
1Department of Paediatrics; 2Department of Rheumatology and Immunology, University of Szeged, Szeged, Hungary
P1010 Identification of novel NLRC4 and IL2RA variants in a family cohort with juvenile-onset arthritis and rash
Jessica L. Bloom1, Megan L. Curran1, Scott Canna2, Harold Hoffman3, Elena Hsieh4
1Department of Pediatrics, University of Colorado, Aurora; 2Departments of Pediatrics and Immunology, University of Pittsburgh, Pittsburgh; 3Departments of Pediatrics and Medicine, University of California San Diego, San Diego; 4Departments of Pediatrics and Immunology and Microbiology, University of Colorado, Aurora, United States
Relation to Patient | Symptoms? | VUS |
---|---|---|
Patient* | Yes | NLRC41, IL2RA2 |
Sister | No | NLRC41 |
Mother* | Yes | NLRC41, IL2RA2, ADAM173 |
Father | No | - |
Maternal Aunt | Yes | NLRC41, IL2RA2 |
Maternal Half-Aunt | No | - |
Maternal Grandfather | No | IL2RA2 |
Maternal Grandmother | No | NLRC44 |
P1011 Discontinuation of colchicine therapy in children with familial Mediterranean fever
Yonatan Butbul1, Rawan Silman1, Shafe Fahoum2, Yackov Berkun3
1Department of Pediatrics B, , Rappaport Children's Hospital, Rambam Medical Center, Haifa; 2Department of Pediatrics B, Rappaport Children’s Hospital, Rambam Medical Center, Haifa; 3Department of Pediatrics and FMF Clinic, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel
P1012 Long-term follow up of a mevalonate deficiency kinase patients cohort
Inmaculada Calvo Penades, Berta Lopez Montesinos, M. Isabel Gonzalez Fernandez, Miguel Marti Masanet, Elena Fernandez De La Puebla
Pediatric Rheumatology Unit, HUIP la Fe, Valencia, Spain
P1013 Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)
Fortunata Carbone1,2, Luca Cantarini3, Teresa Micillo4, Maria Alessio5, Alma Nunzia Olivieri6, Maria Francesca Gicchino7, Antonella Insalaco8, Maria Cristina Maggio9, Orso Maria Lucherini3, Roberto Scarpioni10, Matteo Piga11, Maria Maddalena Angioni11, Laura Obici12, Antonella Simpatico3, Pietro Leccese13, Rita Consolini14, Raffaele Manna15, Paolo Sfriso16, Sara Bindoli16, Paola Galozzi16, Ida Orlando3, Sabrina Chiesa17, Marco Gattorno17, Giuseppe Matarese18,19
1Istituto per l'Endocrinologia e l'Oncologia Sperimentale-Consiglio Nazionale delle Ricerche (IEOS-CNR), Napoli; 2Unità di Neuroimmunologia, IRCCS Fondazione Santa Lucia, Roma; 3Research Centre of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Centre, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena; 4Dipartimento di Biologia, Università di Napoli “Federico II”; 5Department of Translational Medical Sciences, Section of Pediatrics, Federico II University; 6Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica; 7Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli; 8Department of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children's Hospital, Roma; 9Ospedale dei Bambini “Di Cristina” , Palermo; 10Ospedale AUSL “Guglielmo da Saliceto” , Piacenza; 11Reumatologia, Policlinico Universitario, Cagliari; 12Centro per lo Studio e la Cura delle Amiloidosi, Fondazione IRRCS, Policlinico San Matteo, Pavia; 13Rheumatology Institute of Lucania (IReL), Rheumatology Department of Lucania, “San Carlo” Hospital of Potenza and “Madonna delle Grazie” Hospital of Matera, Potenza; 14Laboratory of Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa; 15Centro delle febbri periodiche e malattie rare, Policlinico Gemelli, Università Cattolica Roma, Roma; 16Unità di Reumatologia, DIMED, Policlinico Universitario, Padova; 17Dipartimento di Scienze Pediatriche Generali e Specialistiche, IRCCS Istituto Giannina Gaslini, Genova; 18Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II; 19Istituto per l'Endocrinologia e l'Oncologia Sperimentale, Consiglio Nazionale delle Ricerche (IEOS-CNR), Napoli, Italy
P1014 An Italian family with FCAS
Maria Carrabba1, Marina Zarantonello2, Isabella Ceccherini3, Giovanna Fabio1
1Internal Medicine - Rare Diseases Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; 2Department of Clinical Sciences and Community Health , Università degli Studi, Milan; 3UOC Genetica Medica, UOS Diagnostica Molecolare e Malattie Ereditarie, Istituto Giannina Gaslini, Genoa, Italy
P1015 Scores assessment for clinical management of familial Mediterranean fever
Maria Carrabba1, Marina Zarantonello2, Giovanna Fabio1
1Internal Medicine - Rare Diseases Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; 2Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
P1016 Single center experience with 402 familial Mediterranean fever patients
Ozlem Ozdemir Isik, Senem Tekeoglu, Duygu Temiz Karadag, Ayten Yazici, Ayse Cefle
Department of Internal Medicine Division of Rheumatology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
P1017 Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2)
Katherine Clarke, Cathy Campbell, Ebun Omoyinmi, Ying Hong, Muthana Al Obaidi, Neil Sebire, Paul Brogan
Paediatric Rheumatology, Great Ormond Street Hospital, London, United Kingdom
P1018 A novel duplication in the X-linked inhibitor of apoptosis protein gene leading to recurrent hemophagocytic lymphohistiocytosis that is responsive to interleukin-1 blockade
Dilan Dissanayake1, Rebecca Marsh2, Ahmed Naqvi3, Michael Jordan2, Rae Yeung1, Ronald Laxer1
1Paediatric Rheumatology, The Hospital for Sick Children, Toronto, Canada; 2Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, United States; 3Paediatric Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada
P1019 10 year prognosis of patients diagnosed with familial Mediterranean fever
Serdal Ugurlu1, Bugra H. Egeli2, Asli E. Soykut2, Bilgesu Ergezen2
1Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty; 2University of Istanbul - Cerrahpasa, Istanbul, Turkey
FMF 2018, n(%) | HC 2018, n(%) | p value | |
---|---|---|---|
Female | 34 (47.89) | 35 (59) | 0,193 |
Age | 49±6.91 | 51±5.59 | 0,076 |
AMI/Stroke | 6 (8.45) | 3 (5.08) | 0,45 |
Cancer | 2 (2.82) | 2 (3.39) | 0,85 |
DM | 9 (14.86) | 6 (10.17) | 0,198 |
Hypertension | 25 (33.78) | 10 (16.95) | 0,019* |
Total | 71 | 59 |
P1020 In a familial Mediterranean fever prevalent region, are familial Mediterranean fever and Behçet’s disease associated?
Ozgur Alparslan1, Bugra H. Egeli2, Yeltekin Demirel3, Serdal Ugurlu4
1Gaziosmanpasa University, Tokat; 2university of Istanbul- Cerrahpasa, Istanbul; 3Sivas Cumhuriyet University, Sivas; 4Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul- Cerrahpasa, Istanbul, Turkey
Symptoms | N | % |
---|---|---|
Abdominal Pain | 20 | 66.7 |
Fever | 23 | 76.7 |
Joint Pain | 8 | 26.7 |
Chest Pain | 10 | 33.3 |
Muscle Pain | 7 | 23.3 |
Erysipelas like erythema | 5 | 16.7 |
P1021 Does testing for SAA is more beneficial than CRP for the follow-up of patients with FMF?
Oguzhan Selvi, Serdal Ugurlu, Bilgesu Ergezen, Huri Ozdogan
Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul - Cerrahpasa, Istanbul, Turkey
P1022 The pregnancy outcomes in FMF patients who are exposed to IL-1 blockade with anakinra
Bilgesu Ergezen, Serdal Ugurlu, Huri Ozdogan
Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul - Cerrahpasa, Istanbul, Turkey
Case | Maternal Age at pregnancy | Anakinra Relation to pregnancy | USGs | Weeks at delivery | Gender of the baby/fetus | Mode of the delivery | 1st minute APGAR | Follow-up duration after birth (months) | Complications after birth |
---|---|---|---|---|---|---|---|---|---|
1 | 28 | started at 12th Gestational Week (GW) and used until birth | normal | Birth at 40th GW | girl | vaginal | 10 | 34 mo | No |
2 | 31 | Conceived on Anakinra (have been on Anakinra since 2012), discontinued at 29th GW, reintroduced at 33th GW due to symptom flare. | normal | Birth at 38th GW | boy | C/S | 6 | 48 mo | Methicillin-Sensitive Staphylococcus Aureus incision-site infection (treated with Tygecycline) in mother |
3 | 24 | started at 15th GW and useduntil birth | normal | Birth at 38th GW | boy | Vaginal | 8 | 48 mo | thrombocyte count of the baby was low (23,000/mm3) (After three courses of IVIG, it was increased to 95,000/mm3 and a month later to 269,000/mm3) |
4 | 32 | started at 16th GW, continued for 6 months following the birth at 31th GW | normal | Birth at 31th GW | 2 girls | C/S | 8 for both babies | 42 mo | No |
5 | 25 | Started at 23th GW used until birth at 37th GW | normal | Birth at 37th GW | girl | C/S | 7 | 42 mo | Injection site reaction |
6 | 29 | Started at 32nd GW, used until birth 40 th GW | normal | Birth at 40th GW | Girl | C/S | ? | 37 mo | No |
7 | 33 | Started at 2013, conceived under Anakinra. Anakinra was stopped at the first month of pregnancy, she flared and it was reintroduced. | Normal | Birth at 38th GW | Girl | C/S | 8 | 42 mo | No |
8 | 30 | Started at 34th GW, used until still birth at 37th GW | Intrauterine death at 37th GW | Pregnancy terminated at 37th GW | Boy | Normal | 0 | 10 mo | No |
9 | Zeynep | Started at 6th GW, still using after birth | Normal | Birth at 36th GW | Girl | C/S | 9 | 9 mo | No |
P1023 Clinical picture of 7 PAPA patients followed in a single pediatric rheumatologic center
Silvia Federici1, Camilla Celani1, Virginia Messia1, Giulia Marucci1, Christoph Kessel2, Fabrizio De Benedetti1, Antonella Insalaco1
1Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesu’, Rome, Italy; 2Department of pediatric Rheumathology & immunology, University Children’s Hospital, Muenster, Germany
Patients | Mutation | Clinical features | Laboratory features | Response to therapy |
---|---|---|---|---|
1 | A230T | Recurrent fever, acne, cutaneous abscesses, pyogenic arthritis | ←CRP,ESR,SAA | Anti-TNF |
2 | A230T | Acne, pyogenic arthritis | ←CRP,ESR,SAA | Anti-TNF |
3 | R405C | Recurrent fever | ← CRP,ESR,SAA, Zinc | / |
4 | D266N | Recurrent fever | ←CRP,ESR,SAA, Zinc | / |
5 | E250K | Acne, psoriasis, pyogenic arthritis, hepatosplenomegaly | ←CRP,ESR,SAA, Zinc, serum calprotectin | / |
6 | E250K | pyogenic arthritis,hepato- splenomegaly | ←CRP,ESR,SAA, Zinc, serum calprotectin | IL-1 inhibition |
7 | E250K | Limphnode abscess, hepatosplenomegaly | ←CRP,ESR,SAA | / |
P1024 Clinical presentation, genetic analysis and IFN-score in patients with undefined interferonopathies
Silvia Federici1, Gianmarco Moneta1, Chiara Passarelli1, Claudia Bracaglia1, Luana Raffaele1, Fabrizio De Benedetti2, Antonella Insalaco1
1Division of Rheumatology; 2Ospedale Pediatrico Bambino Gesù, Rome, Italy
Pts | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 910 |
---|---|---|---|---|---|---|---|---|---|
Systemic symptoms | Fever | Fever | Fever | Fever | Fever | FeverFever, Hemophagocytic lymphohistiocytosis | |||
CNS Cerebral calcification | Epilepsy | Epilepsy, mental retardation | / | Hemiplegia | |||||
Gastrointestinal | Epatosplenomegaly, aspecific IBD | IBD simil-RCU | Abdominal pain, diarrhoea | Abdominal pain | / | Hypertransaminasemia | |||
Skin/osteoarticular | Arthro-myalgia, , panniculitis | Arthro-myalgia, arthritis, urticarial rash | Arthro-myalgia, vasculitis | Eczema | Arthro-myalgia | erythema polymorphe, HSP | Arthro-myalgia | / | 9783 28 16 |
C3 (90-180 mg/dl) | 144 | 127 | 81 | 133 | 53 | 137 | 96 | 203 | |
C4 (10-40 mg/dl) | 34 | 24 | 6 | 23 | 20 | 54 | 17 | 38 | |
Immunodeficit autoimmunity | ANA 1:2.560 Anti ds-DNA 1:640 | ANA 1:10.240 Anti dsDNA 1:1280 | Immunodeficit ANA neg | Neg | Neg | Neg | Immuno Deficit / | ||
WBC/ mmc3 | 5,2 | 4,4 | 9,8 | 3,9 | 4,6 | 8,1 | 6,4 | 4,4 | 3,51,7 |
Hb g/dl | 10,4 | 12 | 12,9 | 10,2 | 13 | 11.1 | 14,1 | 12,1 | 16,5 9,7 |
PLT/mmc3 | 199 | 381 | 194 | 86 | 110 | 277 | 214 | 358 | 150 56 |
IS | 14,2 | 171,5 | 54,73 | 60,09 | 27,8 | 17,2 | 53,9 | 40,6 |
32,618,19
|
Genetic analysis | Neg | PSMB9:p.Arg60Cys OTULIN:p.Gln115His | CARD8:p.Leu426Phe | IFIH1: p.Arg374His | Neg | ACP5:DNASE2: p.Arg269p.Ala45Gly Tr |
P1025 Lesson from eurofever registry after the first ten years of enrollment
Martina Finetti, Ilaria Gueli, Joost Frenkel, Seza Ozen, HelenLachmann, Fabrizio De Benedetti, Isabelle Koné-Paut, Carine Wouters, Paul Brogan, Hermann Girschick, Benedicte Neven, Alberto Martini, Nicola Ruperto, Marco Gattorno, on behalf of the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
UOSD Centro Malattie Autoinfiammatorie e Immunodeficienze, on the behalf of the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project, IRCCS Istituto Giannina Gaslini, Genoa, Italy
P1026 Clinical study of Japanese patients with fever of unknown origin: investigation of mutations in 22 genes related to autoinflammatory diseases
Kyoko Fujimoto1, Yukiko Hidaka1, Yumi Yoshida1, Makiko Hayashi1, Takuma Koga1, Shinjiro Kaieda1, Satoshi Yamasaki2, Tomoaki Hoshino1, Hiroaki Ida1
1Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine; 2Center for Rheumatology, Kurume University Medical Center, Kurume-shi, Fukuoka, Japan
P1027 A case of adenosine deaminase 2 deficiency (DADA2) with an uncommon clinical presentation and response to IV IG
Francesca Garbarino1, Roberta Caorsi2, Stefano Volpi2, Alice Grossi3, Isabella Ceccherini3, Marco Gattorno2
1Università Degli Studi Di Genova; 2Clinica Pediatrica Reumatologica, UOSD Malattie Autoinfiammatorie-Immunodeficienze; 3UOC Genetica Medica e UOSD Genetica e Genomica delle Malattie Rare, Ist. Giannina Gaslini, Genova, Italy
P1028 Non-amyloid kidney diseases and autoinflammatory diseases: report of 20 cases and literature review
Charlotte Borocco1,2, Isabelle Kone-Paut1,2, Alexandre Belot3, Marine Desjonqueres3, Alexandre Karras4, Corinne Miceli-Richard5, Bruno Moulin6, Tim Ulinski7, Jean-Jacques Boffa8, David Buob9, Gilles Grateau10,11, Sophie Georgin-Lavialle10,11
1Pediatric Rheumatology, Bicetre University Hospital; 2CeReMAIA, Le Kremlin-Bicêtre; 3Pediatric Rheumatology, Lyon University Hospital, Bron; 4Department of Nephrology, Georges Pompidou European Hospital; 5Department of Rheumatology, Cochin University Hospital, Paris; 6Department of Nephrology, Civil Hospital, Strasbourg; 7Pediatric Nephrology, Trousseau University Hospital; 8Department of Nephrology; 9Department of Pathology; 10Department of Internal Medicine, Tenon University Hospital; 11CeReMAIA, Paris, France
P1029 The transition from pediatrics to adulthood in auto-inflammatory diseases: comparison of 2 transition strategies among 72 patients
Sophie Georgin-Lavialle1, Pierre Quartier2, Brigitte Bader-Meunier2, Katia Stankovic Stojanovic3, Virginie Avellino3, Samuel Deshayes3, Isabelle Melki4, Alexandre Belot5, Isabelle Kone-Paut6, Gilles Grateau7, Véronique Hentgen8 on behalf of transition group project, CEREMAIA, FAI2R and Transition Working Group, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis
1Internal Medicine, Tenon hospital, AP-HP, Paris; 2Pediatric Rheumatology, AP-HP, Necker Hospital; 3Internal Medicine, Tenon Hospital; 4Pediatric Rheumatology, AP-HP, PARIS; 5Pediatric Rheumatology, HCL, Hopital Mère Enfant, LYON; 6Pediatric Rheumatology, AP-HP, Kremlin-Bicêtre hospital, Kremlin-Bicêtre; 7Internal Medicine, AP-HP, Tenon hospital, PARIS; 8General pediatry, CH Versailles André mignot, Versailles, France
P1030 The longitudinal eurofever project: an update on enrollment
Ilaria Gueli, Martina Finetti, Fabrizio De Benedetti, Jordi Anton Lopez, Maria Alessio, Joost Frenkel, Luca Cantarini, Romina Gallizzi, Judith Sanchez Manubens, Marco Cattalini, Efimia Papadopoulou-Alataki, Rolando Cimaz, Donato Rigante, Alma Nunzia Olivieri, Pavla Dolezalova, Alberto Martini, Nicola Ruperto, Marco Gattorno, on behalf of the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
UOSD Centro Malattie Autoinfiammatorie e Immunodeficienze, on the behalf of the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project, IRCCS Istituto Giannina Gaslini, Genoa, Italy
P1031 Digital brachial index testing as a noninvasive tool in diagnosing peripheral vascular disease in DADA2
Patrycja M. Hoffmann1, Deborah L. Stone1, Karyl Barron2, Cornelia Cudrici3, Alessandra Brofferio3, Anne Jones1, Tina Romeo1, Ivona Aksentijevich1, Daniel L. Kastner1, Amanda K. Ombrello1
1NHGRI; 2NIAID; 3NHLBI, National Institutes of Health, Bethesda, MD, United States
P1032 The expanding clinical and laboratory spectrum of PAPA syndrome: the NIH cohort
Patrycja Hoffmann1, Amanda K. Ombrello1, Deborah L. Stone1, Karyl Barron2, Anne Jones1, Tina Romeo1, Michele Nehrebecky1, Jae Chae1, Ivona Aksentijevich1, Daniel L. Kastner1
1NHGRI; 2NIAID, National Institutes of Health, Bethesda, MD, United States
P1033 Pseudodominant inheritance of Behçet-like autoinflammatory disease associated with TNFAIP3 (A20) and MEFV mutations in a Turkish family with familial Mediterranean fever
Nobuyuki Horita1, Ahmet Gul2, Ivona Aksentijevich1, Daniel Kastner1, Elaine Remmers1
1NIH, Bethesda, United States; 2Istanbul University, Istanbul, Turkey
P1034 Systematic review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents
Toni Hospach1, Fabian Glowatzki1, Friederike Blankenburg1, Dennis Conzelmann1, Christian Stirnkorb1, Sandra Müllerschön2, Peter von den Driesch2, Lisa Koehler3, Meino Rohlfs3, Christoph Klein3, Fabian Hauck3
1Olgahospital Stuttgart; 2Klinikum Stuttgart, Stuttgart; 3Dr. von Haunersches Kinderspital, Universität München, München, Germany
P1035 Familial Mediterranean fever in Slovakia – clinical and genetic characteristics of Slovak cohort
Milos Jesenak1,2,3, Lenka Kapustova1, Katarina Hrubiskova4, Tomas Dallos5, Peter Banovcin1
1Centre for Periodic Fever Syndromes, Department of Pediatrics; 2Centre for Periodic Fever Syndromes, Department of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava; 3Department of Clinical Immunology and Allergology, University Teaching Hospital in Martin, Martin; 4Centre for Periodic Fever Syndrome, 5th Department of Internal Medicine, Comenius University in Bratislava, Faculty of Medicine, University Teaching Hospital; 5Department of Pediatrics, National Institute of Children’s Diseases, Comenius University in Bratislava, Faculty of Medicine, Bratislava, Slovakia
P1036 Diagnostic criteria for proteasome-associated autoinflammatory syndromes (PRAASS) including Nakajo-Nishimura syndrome, JMP syndrome and CANDLE syndrome
Nobuo Kanazawa1, Hiroaki Ida2, Noriko Kinjo3, Tomoaki Ishikawa4, Ryuta Nishikomori5
1Department of Dermatology, Wakayama Medical University, Wakayama; 2Department of Medicine, Division of Respirology, Neurology, and Rheumatology, Kurume University School of Medicine, Kurume; 3Department of Pediatrics, University of the Ryukyus Graduate School of Medicine, Nishihara; 4Department of Pediatrics, Nara Medical University, Kashihara; 5Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
P1037 Short term follow-up results of children with familial Mediterranean fever after cessation of colchicine: is it possible to quit?
Ayşe Tanatar, Hafize Emine Sönmez, Şerife Gül Karadağ, Mustafa Çakan, Nuray Aktay Ayaz
Pediatric Rheumatology, Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey
P1038 Periodic fever syndromes: a year follow-up of a tertiary pediatric rheumatology outpatient clinic in Turkey
Nuray Aktay Ayaz, Şerife G. Karadağ, Hafize Emine Sönmez, Ayşe Tanatar
Pediatric Rheumatology, Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey
P1039 Assessing French liberal pediatricians awareness and referral for reccurent fever syndromes: the fireville survey
Valerian Koskas1, Remy Assathiany2, Sylvie Hubinois3, Corinne Levy4, Marc Koskas5, Isabelle Koné-Paut6
1Pediatric Rheumatology, APHP, University of Paris Sud, Le Kremlin Bicêtre; 2Pediatrics, Liberal Exercise, Issy les Moulineaux; 3AFPA (Association Française de Pédiatrie Ambulatoire), Saint Germain en Laye; 4Association Clinique et Thérapeutique Infantile du Val de Marne; 5Liberal Pediatrician, Saint Maur; 6Pediatric rheumatology, APHP, Bicetre Hospital, Le Kremlin Bicêtre, France
P1040 Crimean Tatars is new target nationality for the familial Mediterranean fever
Olga Zhogova1, Natalya Lagunova1, Sergey Ivanovskiy1, Evgeny Suspitsin2,3, Mikhail Kostik2
1V.I. Vernadskiy, Crimean Federal University, Simferopol; 2Saint-Petersburg State Pediatric Medical University; 3N.N. Petrov Institute of Oncology, Saint-Petersburg, Russian Federation
The # of patients | |
---|---|
Big criteria | |
1. Typical recurrent seizures fever with serositis | 15 |
2. Peritonitis | 13 |
3. Pleurisy | 1 |
4. Monoarthritis (hip, knee, ankle joints) | 12 |
Small criteria | |
1. Stomach | 13 |
2. Thorax | 1 |
3. Joint | 10 |
4. Load pain in legs | 9 |
5. A good response to colchicine therapy. | 9 |
Supporting criteria | |
1. The presence of FMF cases in the family history | 11 |
2. Belonging to the relevant ethnic group | 15 |
3. Age of onset of the disease d 20 years | 15 |
4. heavy bedridden | 14 |
5. spontaneous resolution attack | 15 |
6. the presence of bright gaps | 15 |
7. increase in laboratory markers of inflammation | 14 |
8. episodes of proteinuria/hematuria | |
9. unproductive laparotomy or removal of “white”appendix | |
10. parental blood marriage | 3 |
P1041 New variant in the IL1RN-gene associated with late onset and atypical presentation of DIRA – follow-up
Jasmin B. Kuemmerle-Deschner1, Kerstin Reicherter2, Susanne Schlipf3, Sandra Hansmann1, Anton Hospach4, Ilias Tsiflikas5, Xiao Liu6, Susanne Benseler7, Alexander Weber6
1Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tuebingen; 2CEGAT, Tuebingen; 3Kinderarztpraxis Dr. Lakner, Schwäbisch Gmünd; 4Zentrum für Pädiatrische Rheumatologie, Klinikum Stuttgart, Olgahospital, Stuttgart; 5Pediatric Radiology, Department of Radiology, University Hospital Tuebingen; 6Department of Immunology, University of Tuebingen, Tuebingen, Germany; 7Rheumatology, Department of Pediatrics, University of Calgary, Calgary, Canada
P1042 Efficacy of anti-IL-1 treatment in familial Mediterranean fever: a single-center experience
Tuba Kurt, Halide O. Basaran, Fatma Aydın, Nermin Uncu, Banu Celikel Acar
Pediatric Rheumatology, Ankara, Child Health Hematology and Oncology Education and Research Hospital, Ankara, Turkey
P1043 Erysipelas-like erythema as the primary gripe of FMF
Omer Kuru1, Ahmet Ki̇vanc Cengi̇z2
1Physical Medicine and Rehabilitation, Division of Rheumatology, University of Heath Sciences, Istanbul Okmeydani Research and Training Hospital, Istanbul; 2Physical Medicine and Rehabilitation-Rheumatology, 19 Mayis University Faculty of Medicine, Samsun, Turkey
P1044 Analysis of new referrals to a specialist UK adult autoinflammatory disease service
Serdal Ugurlu1, Philip N. Hawkins2, Charalampia Papadopoulou2, Tamer Rezk2, Dorota Rowczenio2, Helen J. Lachmann2
1Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul - Cerrahpasa, Istanbul, Turkey; 2National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, UCL, London, United Kingdom
P1045 Application of autoinflammatory disease damage index (ADDI) to other autoinflammatory diseases in a tertiary referral hospital
Mireia Lopez, Estefania Moreno
Pediatric Rheumatology, Hospital Vall d’Hebron, Barcelona, Spain
P1046 Vasculitis in autoinflammatory diseases in a tertiary hospital
Rosa M. Alcobendas, Sara M. Loza, Pablo F. Fraga, Clara U. Gascon, Catarina Fervenza, Agustin Remesal
Pediatric Rheumatology, University Hospital La Paz, Madrid, Spain
Diagnosis and gene | Age of onset and clinical manifestations | Laboratory & inmunology | Previous diagnosis | Treatment & response | |
---|---|---|---|---|---|
Patient 1 | CANDLE (PSMB8) | Neonatal period: Fever, chondritis, aseptic meningitis, joint limitations, erythematous plaques,lipodystrophy, lymphadenopathy, splenomegaly and hepatomegaly | Anemia, ESR 122 mm/h, CRP 100 mg/L, AST 55 U/L, ALT 51 U/L, | CINCA | Anakinra (no) Tocilizumab (no) Baricitinib (yes) |
Patient 2 | ISG15 defficiency (ISG15) | 6 months: Intermittent fever, severe cutaneous ulcerations skin, chorioretinitis, brain calcifications | CRP 75 mg/L, HLA B51 (+), ANA (-), ANCA (-), AST 80 U/L, ALT 65 U/L | Early onset Behçet disease | Corticosteroids (yes) Etanercept (partial) Anakinra (no) Adalimumab (no: ADA) Tocilizumab (partial) |
Patient 3 | FCL (TREX1) | 6 years: Raynaud, amputation of phalanx, inflammatory arthritis and chilblains | Normal blood counts, Inmunology (-) | JIA | Etanercept (no) Tofacitinb (yes) |
Patient 4 | DADA2 (CECR1) | 7 months: intermittent fever, livedo reticularis, paralysis of VI craneal nerve, Raynaud | CRP 16 mg/L, IgG 567 mg/dl, IgA 22 mg/dlIgM 32 mg/dl, Total lymphocytes 950/μL ANA and ANCA (-) | PAN | ASA Etanercept (yes) |
Patient 5 | DADA2 (CECR1) | 5 years: Intermittent fever, livedo resticularis, paralysis of VI craneal nerve, painful nodular lesions, arthromyalgia, abdominalgia, Raynaud, peripheral neuropathy | ESR 27 mm/h; RCP 87.6 mg/L ANA and ANCA (-) | PAN | ASA Corticosteroids (yes) Cyclophosphamide (no) Etanercept (unknown) --- |
P1047 Diagnosis and treatment of periodic fevers: a single centre experience
Peter McNaughton1,2, Jane Peake1,3, Ben Whitehead1,3, Su Han Lum2, Kahn Preece4
1Queensland Children's Hospital, Brisbane, Australia; 2Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom; 3University of Queensland, Brisbane; 4John Hunter Hospital, Newcastle, Australia
P1048 Multifocal osteomyelitis revealing a PSTPIP1- associated myeloid-related proteinemia inflammatory (PAMI) syndrome: case report and review of the literature
Manel Mejbri, Katerina Theodoropoulou, Michael Hofer
Femme-Mère-Enfant, Centre Hospitalier Universitaire Vaudois CHUV, Lausanne, Switzerland
Monogenic autoinflammatory diseases (basic science)
P1049 Investigation of inflammasome components in the process of cell migration in FMF patients
Tayfun H. Akbaba1, Z. Yeliz Akkaya-Ulum1, Selcan Demir2, Zeynep Tavukcuoglu1, Seza Ozen2, Banu Balci-Peynircioglu1
1Medical Biology; 2Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey
P1050 Cell migration defect in hyperimmunoglobulin D syndrome
Tayfun H. Akbaba1, Selcan Demir2, Z. Yeliz Akkaya-Ulum1, Seza Ozen2, Banu Balci-Peynircioglu1
1Medical Biology; 2Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey
P1051 Possible regulatory effects of miRNAs in the pathogenesis of systemic auto inflammatory diseases, from the perspective of familial Mediterranean fever
Z. Yeliz Akkaya-Ulum1, Zeynep Tavukcuoglu1, Ezgi Deniz Batu-Akal2, Tayfun Hilmi Akbaba1, Hafize Emine Sonmez2, Banu Balci-Peynircioglu1, Seza Ozen2
1Medical Biology; 2Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey
P1052 MIR-197 regulates inflammation in monocytes and synovial fibroblasts by targeting IL1R1
Yeliz Z. Akkaya Ulum1, Zeynep Tavukcuoglu1, Tayfun Hilmi Akbaba1, Engin Yilmaz2, Banu Balci-Peynircioglu1
1Medical Biology, Hacettepe University, Ankara; 2Medical Biology, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey
P1053 Comparison of FMF patients with age of onset before 20 versus 40 years and over
Okan Aydin, Serdal Ugurlu, Huri Ozdogan
Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul - Cerrahpasa, Istanbul, Turkey
≥40 years n=50 | ≤20 years n= 100 | p | |
---|---|---|---|
Sex (F:M); present age (mean±SD) (yr) | 32:18; 57.2±7.9 | 62:38; 31.8±9.1 | NS; <0.001 |
Mean age at onset,(mean±sd) (yr) |
45.6±5.2
|
8.7±4.8
|
<0.001
|
Mean age at diagnosis (mean ±sd) (yr) |
50.4±7.3
|
19.1±11.2
|
<0.001
|
Delay in diagnosis (mean ±sd) (yr) |
4.8±5.5
|
10.4±11.8
|
<0.001
|
Mean disease duration (mean ±sd) (yr) |
11.5±6.4
|
23.1±10.8
|
<0.001
|
Abdominal pain, n (%) | 44(88) | 89(89.0) | NS |
Chest pain, n (%) | 7(14.0) | 27 (27.0) | NS |
Fever, n (%) |
30(60.0)
|
81(81.0)
|
0.005
|
Arthritis, n (%) | 12(24.0) | 33(33.0) | 0.25 |
Myalgia, n (%) |
1(2.0)
|
12(12.0)
|
0.04
|
Amyloidosis, n (%) | 1(2.0) | 3(3.0) | NS |
Positive family history, n (%) | 33(68.7) | 62 (65.2) | NS |
Response to colchicine, n (%) |
37(82.2)
|
93 (94.8)
|
0.014
|
M694VHomozygous, n (%) |
2(4.5)
|
23(25.8)
|
0.003
|
N of M694Vallelles |
24( 48 )
|
82 (82)
|
0.014
|
No mutation, n (%) | 3(6.8) | 2(2.2) | NS |
P1054 What history of appendectomy will tell us about the course of familial Mediterranean fever in adulthood?
Erdal Bodakçi1, Nazife S. A. Bilge1, Nuh Ataş2, Berkan Armağan3, Hasan Satış2, Alper Sarı3, Hakan Babaoğlu2, Gözde K. Yardımcı3, Reyhan B. Salman2, Levent Kılıç3, Mehmet A. Öztürk2, Berna Göker2, Seminur Haznedaroğlu2, Umut Kalyoncu3, Abdurrahman Tufan2, Timuçin Kaşifoğlu1
1Deparment of Internal Medicine, Division of Rheumatology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir; 2Deparment of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine; 3Deparment of Internal Medicine, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey
P1055 Complement endorse the pathogenesis in autoinflammation
Juergen Brunner1, Wilfried Posch2, Doris Wilflingseder2
1Pediatrics; 2Division of Hygiene and Medical Microbiology, Medical University Innsbruck, Innsbruck, Austria
P1056 Generation of ADA2 genetic knockout in a myeloid cell line using CRISPR/CAS9 genome editing: an in vitro cell line model to study DADA2
Marina S. Casimir, Ying Hong, Paul Brogan, Despina Eleftheriou
Infection, Inflammation and Rheumatology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
P1057 Promising blood test for diagnosis and treatment options in patients with suspected chronic auto-inflammatory syndromes
Anne-Laure N. Chetaille1, Nathalie Pagé2, Marie-Pier Longchamps2, Louis Bessette2, Laetitia Michou2, Paul Fortin2, Philippe Tessier2, Martin Pelletier2
1Rhumatologie Adulte et Pédiatrique; 2CHU de Québec-Université Laval, Québec, Canada
P1058 Specific dysbiosis associated with familial Mediterranean fever complicated or not with AA amyloidosis
Samuel Deshayes1, Soraya Fellahi2, Jean-Philippe Bastard2, Jean-Marie Launay3, Jacques Callebert3, Thibault Fraisse4, David Buob5, Jean-Jacques Boffa6, Irina Giurgea7, Charlotte Dupont8, Sarah Jegou9, Marjolène Straube9, Alexandre Karras10, Achille Aouba1, Gilles Grateau4, Harry Sokol11, Sophie Georgin-Lavialle4 and AA Amyloidosis Study Group
1Internal Medicine, CHU Côte de Nacre, Caen; 2Biochemistry, Hôpital Tenon; 3Biochemistry, Hôpital Lariboisière; 4Internal Medicine; 5Anatomopathology; 6Nephrology, Hôpital Tenon; 7Medical Genetics, Hôpital Trousseau; 8Reproduction Biology, Hôpital Tenon; 9AP-HP Laboratoire des Biomolécules (LBM), UPMC Université Paris 06; 10Nephrology, Hôpital Européen Georges Pompidou; 11Gastroenterology, Hôpital Saint-Antoine, Paris, France
P1059 Proinflammatory cytokines induced by PBMCS from a patient with a NLRP1 variant showing severe corneal intraepithelial dyskeratosis
Troels Herlin1, Sofie E. Jørgensen2, Christian Høst1, Mette Christiansen3, Dorte A. Larsen4, Trine H. Mogensen5
1Pediatrics, Aarhus University Hospital; 2Biomedicine, Aarhus University; 3Clinical Immunology; 4Ophthalmology; 5Infectious diseases, Aarhus University Hospital, Aarhus, Denmark
P1060 Gain-of-function mutation of NOD2 impairs its ligand specific immune responses in BLAU syndrome patient-derived IPS cells
Naotomo Kambe1, Nhung T. M. Ly1, Megumu K. Saito2, Hiroyuki Okamoto1
1Dermatology, Kansai Medical University, Hirakata, Osaka; 2Clinical Application, CiRA, Kyoto University, Kyoto, Japan
P1061 The role of DNA methylation for disease severity in patients with heterozygous mutations in the Mediterranean fever gene MEFV
Julie Krainer1, Walter Pulverer1, Dirk Foell2, Seza Özen3, Andreas Weinhäusel1
1AIT - Austrian Institute Of Technology, Vienna, Austria; 2Pediatric Rheumatology & Immunology, University Children's Hospital, Muenster, Germany; 3Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey
P1062 Differential kinetic of actin polymerization in neutrophil from patients with familial Mediterranean fever
David Poghosyan1, Anush Martirosyan1, Nune Mkrtchyan2,3, Sona Margaryan1, Susanna Ghonyan1, Gayane Amaryan2,3, Gayane Manukyan1
1Laboratory of Molecular and Cellular Immunology, Institute of Molecular Biology; 2Arabkir Medical Centre, Institute of Child and Adolescent Health, National Pediatric Centre for Familial Mediterranean Fever; 3Yerevan State Medical University, Yerevan, Armenia
P1063 CARD15 mutations in an Indian cohort of Blau syndrome
Amit Rawat1, Deepti Suri1, Rajni Kumrah1, Sagar Bhattad2, Sandesh Guleria1, Vignesh Pandiarajan1, Ankur Jindal1, Anju Gupta1, Isabelle Ceccherini3, Marco Gattarno4, Surjit Singh1
1Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh; 2Pediatric Immunology and Rheumatology, Aster CMI Hospital, Bengaluru, India; 3Genetica Medica; 4U.O.C. Pediatria II - Reumatologia, Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy
P1064 Differential activation of the Pyrin inflammasome in monocytes and macrophages predicts the pathological significance of MEFV variants in familial Mediterranean fever (FMF) patients
Takeshi Shiba1, Takayuki Tanaka1, Hiroaki Ida2, Misa Watanabe3, Haruna Nakaseko4, Mitsujiro Osawa5, Hirofumi Shibata1, Kazushi Izawa1, Takahiro Yasumi1, Yuri Kawasaki5, Megumu K. Saito5, Junko Takita1, Toshio Heike6, Ryuta Nishikomori1
1Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto; 2Department of Respiratory, Neurology, and Rheumatology, Kurume University School of Medicine, Fukuoka; 3Department of Pediatrics, Toho University School of Medicine, Tokyo; 4Department of Infection and Immunology, Aichi Children’s Health and Medical Center, Aichi; 5Department for Clinical Application, Center for iPS cell Research and Application, Kyoto University, Kyoto; 6Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan
P1065 Cross-talk between type I IFN pathway and TLR sensing in DNase2 mutated fibroblasts
Alessandra Tesser1, Elisa Piscianz2, Valentina Boz2, Giulia Piperno3, Federica Benvenuti3, Alberto Tommasini1
1IRCCS Burlo Garofolo, Trieste, Italy; 2University of Trieste, Italy; 3ICGEB, Trieste, Italy
pTBK1 (MFI) Healthy control fibros | pTBK1 (MFI) DNase2 mut fibros | |
---|---|---|
NS | 2.9 | 3 |
E.coli MOI 120 | 3.1 | 7 |
E.coli MOI 400 | 3.7 | 8 |
LPS | 2.3 | 6.1 |
cGAMP | 3.3 | 4.3 |
Poly(I:C) | 3.4 | 5.6 |
cGAMP + LPS | 4.5 | 7.5 |
cGAMP + Poly(I:C) | 4.5 | 7.6 |
Poly(I:C) + LPS | 2.8 | 4.4 |
P1066 Auto-inflammatory diseases (SAIDS) in Western Switzerland: a descriptive study through the JIRcohorte platform
Lorenzo Tosetti, Manel Mejbri, Aikaterini Theodoropoulou, Michael Hofer
Pediatric Immunology Allergology Rheumatology Unit, University Hospital Lausanne and University Hospital Geneva, Lausanne and Geneva, Switzerland
P1067 Familial Mediterranean fever associated infertility and underlying factors
Nuh Atas1, Berkan Armagan2, Erdal Bodakci3, Timucin Kasifoglu3, Hasan Satis1, Alper Sari2, Nazife S. Y. Bilge3, Hakan Babaoglu1, Gozde K. Yardimci2, Reyhan B. Salman1, Levent Kilic2, Mehmet A. Ozturk1, Berna Goker1, Seminur Haznedaroglu1, Umut Kalyoncu2, Abdurrahman Tufan1
1Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine; 2Department of Internal Medicine, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara; 3Department of Internal Medicine, Division of Rheumatology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey
P1068 MEFV-mutant induced pluripotent stem-cells have reduced anti-inflammatory properties
Katharina Kessel1,2, Christoph Kessel1, Nadine Ludwig3, Toni Weinhage1, Dirk Foell1, Helmut Wittkowski1
1Pediatric Rheumatology and Immunology, University Children’s Hospital; 2Department of Nuclear Medicine; 3Department of Anesthesiology, Intensive Care and Pain Medicine, University Hospital Münster, Muenster, Germany
Monogenic autoinflammatory diseases (genetics)
P1069 Three novel cases of late-onset cryopyrin-associated periodic syndromes due to somatic NLRP3 mosaicism
Anna Mensa-Vilaró1, María Teresa Bosque2, Enrique Gómez de la Fuente3, Natalia Palmou4, Luis Martín-Penagos5, Concha Delgado2, Susana Plaza1, Rocío Lara1, María Carmen Antón1, Helios Martinez-Banaclocha6, Juan J. Martinez-García6, Jordi Yagüe1,7,8, Miguel Ángel González-Gay4, Pablo Pelegrin6, Juan I. Arostegui1,7,8
1Immunology, Hospital Clinic, Barcelona; 2Rheumatology, Hospital Universitario Lozano Blesa, Zaragoza; 3Dermatology, Hospital Universitario Fundación Alcorcón, Alcorcón; 4Rheumatology; 5Nephrology, Hospital Universitario Marqués de Valdecilla, Santander; 6Instituto Murciano de Investigación Biosanitaria IMIB-Arrixaca, Murcia; 7Institut d’investigacions Biomèdiques August Pi i Sunyer; 8Universitat de Barcelona, Barcelona, Spain
Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Sex / Current Age (years) | Female / 63 | Female / 66 | Male / 67 |
Age at disease Onset (years) | 47 | 55 | 56 |
Fever | Yes | No | Yes |
Urticaria-like Rash | Yes | Yes | Yes |
Eye Inflammation | Bilateral Uveitis | No | Conjunctivitis |
Joint Inflammation | Arthralgias | Arthralgias / Arthritis | Arthralgias / Arthritis |
Headache | Yes | Yes | No |
Hearing Loss | Yes | No | Yes |
AA-type Amyloidosis | Yes | No | No |
P1070 The NLRP3 p.A441V mutation in cryopyrin-associated periodic syndrome pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a founder effect
Eman Assrawi1, Fawwaz Awad2, Claire Jumeau1, Sylvie Odent3, Veronique Despert4, G. Cam5, Aleth Perdriger6, Camille Louvrier1, Laetitia Cobret1, Bruno Copin1, Phillipe Duquesnoy1, William Piterboth1, Claire Le Jeunne7, Sophie Georgin-Lavialle8, Gilles Grateau8, Marie Legendre1, Irina Giurgea1, Sonia Athina Karabina1, Serge Amselem1
1Sorbonne Université, Inserm UMR_S933; 2Sorbonne Université,Inserm UMR_S933, Paris; 3Centre Hospitalier Universitaire de Rennes, Service de Génétique; 4Centre Hospitalier Universitaire de Rennes, Département de Médecine de L’enfant et de L’adolescent, Rennes; 5Centre Hospitalier de Saint-Malo, Service de Néphrologie, Saint-Malo; 6Centre Hospitalier Universitaire de Rennes, Service de Rhumatologie, Rennes; 7Hôpital Cochin; 8Hôpital Tenon , Service de Médecine Interne, Paris, France
P1071 The analysis of IL-36RA structural dynamics improves pathogenicity predictions for IL36RN variants observed in generalised pustular psoriasis
Camilla Davan-Wetton, Niina Karoliina Hassi, Joseph Chifung Ng, Franca Fraternali, Francesca Capon
King's College London, London, United Kingdom
P1072 Spondyloenchondrodysplasia and systemic lupus erythematosus: case report of two sibling
Bulent Kara1, Ayse Cefle2, Ozgur Kasapcopur3, Ayfer Sakarya Gunes1
1Department of Pediatrics Division of Child Neurology; 2Department of Internal Medicine Division of Rheumatology, Kocaeli University Faculty of Medicine, Kocaeli; 3Department of Pediatric Rheumatology, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey
P1073 ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1
Alice Grossi1, Francesca Garbarino2, Roberta Caorsi3, Roberto Cusano4, Marta Rusmini1, Federica Penco3, Francesca Schena3, Rosa Anna Podda5, Paolo Uva4, Isabella Ceccherini1, Marco Gattorno3
1UOC Genetica Medica, IRCCS Istituto Giannina Gaslini; 2Università degli Studi di Genova; 3Clinica Pediatrica Reumatologia e UOSD Centro Malattie Autoinfiammatorie-Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genova; 4Centre for Advanced Studies Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula; 5Clinica Pediatrica,Talassemie e Malattie Rare, Ospedale Brotzu e Università degli studi di Cagliari, Cagliari, Cagliari, Italy
P1074 Evaluation of the role of SAA1, SAA2 and SAA4 genes in AA amyloidosis
Claire Jumeau1, Camille Louvrier1, Eman Assrawi1, Fawaz Awad1, Laetitia Cobret1, Sophie Georgin-Lavialle1,2, Cécile Cazorla3, Philippe Duquesnoy1, Jean-Simon Rech3, William Piterboth1, Florence Dastot-Le Moal1, Bruno Copin1, David Buob4, Gilles Grateau1,5, Jean-François Bernaudin1,6, Marie Legendre1, Sonia-Athina Karabina1, Irina Giurgea1, Serge Amselem1
1Sorbonne Universite, INSERM UMR_S933, Hôpital Trousseau; 2Hôpital Tenon, Service de Médecine Interne, Paris; 3Service de Médecine Interne et Infectiologie, Nouméa; 4Hôpital Tenon, Service d'Anatomie et Cytologie Pathologiques; 5Hôpital Tenon, Service de Médecine Interne, Paris; 6Hôpital Avicenne, Service de Pneumologie, Bobigny, France
P1075 An integrated data sharing and analysis application for systemic autoinflammatory diseases
Barend P. Kant1, K J. van der Velde2, Mariska K. Slofstra2, Joost Frenkel3, Andreas Weinhäusel4, Isabelle Touitou5, Dirk Föll6, JuanI. Aróstegui7, Seza Ozen8, Marco Gattorno9, Mariëlle E. van Gijn1, Morris A. Swertz2 and the INSAID Consortium
1Department of Genetics, University Medical Center Utrecht, Utrecht; 2Genomics Coordination Center and Department of Genetics, University of Groningen and University Medical Center Groningen, Groningen; 3Department of Pediatrics, University Medical Center Utrecht, Utrecht, Netherlands; 4Department of Health and Environment, Austrian Institute of Technology, Vienna, Austria; 5Department of Medical Genetics, Rare Diseases and Personalised Medicine, Inserm, Montpellier, France; 6Department of Pediatric Rheumatology and Immunology, University of Münster, Münster, Germany; 7Department of Immunology, Hospital Clínic of Barcelona, Barcelona, Spain; 8Department of Pediatrics, Hacettepe University, Ankara, Turkey; 9Department of Pediatric Rheumatology, IRCCS G. Gaslini Institute, Genoa, Italy
P1076 Comparative analysis ofreported 54 HA20 cases and 520 Japanese Behcet’s disease patients
Yohei Kirino, Naomi Tsuchida, Yutaro Soejima, Hideaki Nakajima
Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Characteristics | HA20 | BD | p | Odds ratio | 95%CI | |||
---|---|---|---|---|---|---|---|---|
(n=54) | (%) | (n=520) | (%) | |||||
Age at onset (years) (mean ± SD) | 6.1 ± 6.5 | 36.4 ± 12.3 | < 0.001 | 533.71 | 171.84 | 1657.65 | ||
Familial history | 15 /25 | 60 | 19 /332 | 5.7 | < 0.001 | 24.71 | 9.8 | 62.29 |
Recurrent fever | 37 /50 | 74 | 39 /364 | 10.7 | < 0.001 | 23.72 | 11.62 | 48.43 |
Oral ulcer | 46 /52 | 88.5 | 518 /520 | 99.6 | < 0.001 | 0.03 | 0.01 | 0.15 |
Genital ulcer | 34 /52 | 65.4 | 372 /520 | 71.5 | 0.35 | 0.75 | 0.41 | 1.37 |
Eye involvement | 5 /51 | 9.8 | 330 /520 | 63.5 | < 0.001 | 0.06 | 0.02 | 0.16 |
Skin involvement | 27 /51 | 52.9 | 461 /520 | 88.7 | < 0.001 | 0.14 | 0.08 | 0.27 |
Gastrointestinal involvement | 22 /52 | 40.7 | 78 /520 | 15 | < 0.001 | 4.16 | 2.28 | 7.58 |
P1077 Novel missense mutation of TNFAIP3 gene in a family with A20 haploinsufficiency
Charlotte Borocco1,2, Guillaume Sarrabay3,4, Guilaine Boursier3,4, Solene Artru5, Helene Palluy1, Isabelle Touitou3,4, Isabelle Kone-Paut1,2
1Pediatric Rheumatology, Bicetre University Hospital; 2CeReMAIA, Le Kremlin-Bicêtre; 3Laboratory of Rare and Autoinflammatory Genetic Diseases, Montpellier University Hospital; 4CeReMAIA, Montpellier; 5Department of Pediatric Gastroenterology, Hepatology and Nutrition, Necker Enfants Malades University Hospital, Paris, France
P1078 Development and clinical application of a targeted next generation sequencing gene panel for monogenic autoinflammatory diseases of the CNS
Dara McCreary1, Ebun O. Omoyinmi1, Ying Hong1, Ciara Mulhern1, Charalampia Papadopoulou2, Muthana Al Obaidi2, Kshitij Mankad3, Kimberly Gilmour4, Cheryl Hemingway5, Paul Brogan6, Despina Eleftheriou1,7
1Infection, Immunity and Inflammation, University College London; 2Paediatric Rheumatology Department, GOSH; 3Paediatric Neuroradiology, UCL Great Ormond Street Institute of Child Health; 4Paediatric Immunology Department; 5Paediatric Neurology Department, GOSH; 6Infection, Immunity and Inflammation, UCL GOSH; 7ARUK centre for adolescent rheumatology, University College London, London, United Kingdom
P1079 Next generation sequencing analysis of an NLRP3 mutation negative CAPS cohort
Sonia Melo Gomes1, Ebun Omoyinmi1, Juan Arostegui2, Ying Hong1, Nigel Klein1, Paul Brogan1
1Infection, Inflammation and Rheumatology, UCL GOS Institute of Child Health, London, United Kingdom; 2Immunology -CBD, Hospital Clínic, Barcelona, Spain
Patient (gender, age at testing) | CAPS phenotype | NGS | Gene | aa change | Type |
---|---|---|---|---|---|
1- M, 8y | CINCA | ADS |
NLRP3
| p.F566L | Mosaic 14.5% |
2-M, 8y | MWS | ADS |
NLRP3
| p.E567K | Mosaic3.1% |
3-M, 1y | MWS | ADS |
NLRP3
| p.G564D | Mosaic 12.5% |
4 -M, 2y | CINCA | WES |
NLRP3
| p.G779V | Heterozygous |
5-F, 16y | CINCA-like | WES |
NOD2
| p.D512Y | Heterozygous |
6- M, 14y | MWS-like | WES |
IL36RN
| p.S113L | Heterozygous(AR) |
7- M, 8y | MWS | WES |
AP1S3
| p.F4C | Heterozygous |
8- F, 2y | MWS | WES | - | - | - |
P1080 A recessive mutation in NLRC4 (A160T) causes autoinflammation and immunedysregulation, and predisposes to ulcerative colitis in heterozygous carriers
Leonardo O. Mendonca1,2, Annemarie Steiner3, Alessandra Pontillo4, Isabella Ceccherini5, Francesco Caroli5, Alice Grossi5, Jonas Moecking6, Fiona Moghaddas6,7,8, Marco Gattorno9, Seth Masters3
1International Center for Autoinflammatory Diseases and Primary Immunodeficienceis, Istituto Giannina Gaslini; 2Immunogenetics Laboratory, Biomedical Science Institute, University of São Paulo, Sao Paulo, Brazil; 3Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; 4Immunogenetics Laboratory, Biomedical Science Institute, University of São Paulo, São Paulo, Brazil; 5UOC Medical Genetics, Istituto Giannina Gaslini, Genoa, Italy; 6Inflammation Division, The Walter and Eliza Hall Institute for Medical Research; 7Department of Medical Biology, The University of Melbourne; 8Department of Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia; 9International Center for Autoinflammatory Diseases and Primary Immunodeficienceis, Istituto Giannina Gaslini, São Paulo, Brazil
P1081 The Australian Autoinflammatory Diseases Registry (AADRY): a streamlined approach to the genetic and immunological evaluation of monogenic autoinflammatory diseases
Fiona Moghaddas1,2,3, Jenni Harris2, Dunja Vekic4, Harapas Cassandra2, Dale J. Calleja2, Navid Adib5, Jonathan Akikusa6, Roger Allen6, Dan Andrews7, Vanessa Bryant3,8, Geoffrey Cains4, Jeffrey Chaitow9, Britt Christensen10, David Coman11, Matthew Cook12, Angela Cox6,13, Jo A. Douglass1, Peter Gowdie6,13, Laine Hosking14, Matthew F. Hunter15, Paul Kubler16, Senq J. Lee17, Jane Munro6, Samar Ojaimi18, William Renton6, Davinder Singh-Grewal9,19, Charlotte Slade1,3,8, Joanne Smart14, Georgina Tiller6, Ben Whitehead20, Jane Woods4, Philip Wu21, Sam Mehr14, Ian P. Wicks2,3,22, Seth L. Masters2,3 and AADRY
1Clinical Immunology and Allergy, The Royal Melbourne Hospital; 2Inflammation Division, WEHI; 3Department of Medical Biology, The University of Melbourne; 4Dermatology Department, Liverpool Hospital; 5Queensland Rheumatology Services, Arthur House, Red Hill; 6Rheumatology Department, The Royal Children's Hospital; 7The John Curtin School of Medical Research, Australian National University, Canberra; 8Immunology Division, WEHI; 9Rheumatology Department, The Children’s Hospital at Westmead; 10Gastroenterology Department, The Royal Melbourne Hospital; 11Metabolic Medicine, Queensland Children’s Hospital, Brisbane; 12Centre for Personalised Immunology; 13Paediatric Rheumatology Department, Monash Children’s Hospital; 14Paediatric Immunology Department, The Royal Children’s Hospital; 15Monash Genetics, Monash Health; 16Department of Rheumatology, Royal Brisbane and Women's Hospital; 17Department of Rheumatology, Perth Children's Hospital; 18Department of Infection and Immunity, Monash Children’s Hospital; 19Rheumatology Department, The Sydney Children’s Hospital; 20Rheumatology Department, Queensland Children’s Hospital, Brisbane; 21Australian Phenomics Facility, Australian National University, Canberra; 22Rheumatology Department, The Royal Melbourne Hospital, Australia
P1082 Genotypic diversity observed within a large cohort of Armenian patients with late-onset familial Mediterranean fever
Gernot Kriegshäuser1,2, Hasmik Hayrapetyan3,4, Stepan Atoyan3,4, Stefan Nemeth5, Christian Oberkanins5, Tamara Sarkisian3,4
1Institute of Clinical Chemistry and Laboratory Medicine, General Hospital, Steyr; 2Clinical Institute of Medical and Laboratory Diagnostics, Medical University, Graz, Austria; 3Center of Medical Genetics and Primary Health Care; 4Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia; 5ViennaLab Diagnostics, Vienna, Austria
P1083 Genetic polymorphism of familial Mediterranean fever in Georgia - a snapshot
Karaman Pagava, Helen Phagava, Davit Tatoshvili
Tbilisi State Medical University, Tbilisi, Georgia
P1084 Exploratory study of MYD88 L265P and clonal haematopoiesis in 30 patients with Schnitzler syndrome, an acquired systemic autoinflammatory disorder
Shelly Pathak1, Dorota Rowczenio2, Roger Owen3, Gina D. Doody4, Darren Newton4, Claire Taylor4, Catherine Cargo3, Philip Hawkins2, Karoline Krause5, Helen Lachmann2, Sinisa Savic1
1Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds; 2National Amyloidosis Centre, University College London, London; 3Department of Haematology, St James’s University Hospital; 4Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, United Kingdom; 5Department of Dermatology and Allergy, Universitätsmedizin Berlin, Berlin, Germany
P1085 E148Q mutation in family with familial Mediterranean fever
Tamara F. Sarkisian, Hasmik Hayrapetyan, Anna Yeghiazaryan, Ruzanna Karakhanyan
Center of Medical Genetics and Primary Health Care, Yerevan, Armenia
P1086 Familial Mediterranean fever: clinical significance of E148Q and P369S mutations
Tamara F. Sarkisian, Hasmik Hayrapetyan, Stepan Atoyan, Anna Yeghiazaryan, Gohar Shahsuvaryan
Center of Medical Genetics and Primary Health Care, Yerevan, Armenia
P1087 Severe prognosis of late onset CAPS associated with age related clonal hematopoiesis
Yael Shinar1, Rinat Cohen1, Victoria Marcu1, Itamar Goldstein1, Meital Nagar1, Gleb Slobodin2, Ilan Ben-Zvi1, Michael Rozenbaum2
1Sheba Medical Center ,Ramat Gan; 2Bnai Zion Medical Center , Haifa, Israel
P1088 CNV analysis from targeted NGS data: case report on a patient with a large deletion in the NLRP12 gene
Barbara Bangol, Kathrin Starz, Martin Ziegler, Daniel Becker, Jenny Schiller, Sophie Eilitz, Hanns-Georg Klein
MVZ Martinsried GmbH, Martinsried, Germany
P1089 Population based study of frequency of FMF gene mutation carrying in Armenia
Artashes Tadevosyan, Tigran Avagyan, Anush Budumyan, Hasmik Hayrapetyan, Gayane Amaryan
Public Health and Helth Care Organization, Yerevan State Medical University, Yerevan, Armenia
MEFV type | Among female carriers (number) | Among male carriers (number) | Among all carriers (number) |
---|---|---|---|
M694V | 21(11.73) | 11 (9.90) | 32 (11.03) |
V726A | 13 (7.26) | 17 (15.31) | 30 (10.34) |
E148Q | 14 (7.82) | 9 (8.10) | 23 (7.93) |
M680I | 2 (1.11) | 6 (5.40) | 8 (2.76) |
P369S | 3 (1.67) | - | 3 (1.03) |
F749L | 3 (1.67) | 1 (0.90) | 4 (1.38) |
A744S | 2 (1.11) | 1 (0.90) | 3 (1.03) |
K695R | 3 (1.67) | - | 3 (1.03) |
R761H/M694I | R761H-2 (1.11) | M694I-1 (0.90) | R761H -2 (0.69)/ M694I-1 (0.34) |
P1090 Whole genome linkage and exome sequencing analysis in a CRMO family
Derya Yavuz1, Selcuk Yuksel2, Eda Tahir Turanli1
1Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul; 2Department of Pediatric Rheumatology and Pediatric Nephrology, Pamukkale University , Denizli, Turkey
P1091 Detection of a rare variant on PSTPIP1 gene through three generations in a Turkish family with systemic autoinflammatory disease
Merve Ö. Önen1, Serdal Ugurlu2, Ayse Balamir1, Eda Tahir Turanli1, Huri Ozdogan2
1Department of Molecular Biology and Genetics, Istanbul Technical University; 2Department of Rheumatology, Istanbul University Cerrahpasa, Istanbul , Turkey
Dermatology and Autoinflammation
P1092 Long-term treatment with ustekinumab for generalized pustular psoriasis in a child with heterozygous mutation in the IL36RN and TYK2 gene
Troels Herlin1, Mette Christiansen2, Sofie E. Jørgensen3, Christian Høst1, Mia Glerup1, Jens E. Veirum1, Dorte A. Larsen4, Lars Iversen5, Mia Glerup1, Birgitte Mahler1, Trine H. Mogensen6
1Pediatrics; 2Clinical Immunology, Aarhus University Hospital; 3Biomedicine, Aarhus University; 4Ophthalmology; 5Dermatology; 6Infectious diseases, Aarhus University Hospital, Aarhus , Denmark
Non-monogenic SAIDs (clinical)
P1093 Performance of newly proposed periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome criteria in regions endemic for famillial Mediterranean fever (FMF)
Amra Adrovic, Mehmet Yildiz, Neslihan Gucuyener, Ipek Ulkersoy, Melisa Kanber, Sezgin Sahin, Oya Koker, Kenan Barut, Ozgur Kasapcopur
Pediatric Rheumatology, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey
P1094 Spine involvement in patients with non-bacterial multifocal osteomyelitis
Dmitry Alekseev1, Irina Nikishina1, Dmitry Zubkov1, Aleksandr Smirnov2, Olga Kostareva1
1Pediatric Rheumatology; 2Radiology, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russian Federation
P1095 DNASE1L3 variant in hypocomplementemic urticarial vasculitis syndrome identifies a different clinical phenotype
Marco Ranalli1, Chiara Passarelli2, Virginia Messia3, Manuela Pardeo3, Emanuela Sacco3, Antonella Insalaco3, Marina Vivarelli4, Fabrizio De Benedetti3, Claudia Bracaglia3
1Pediatric Department, La Sapienza University of Rome; 2Unit of Laboratory of Medical Genetics; 3Division of Rheumatology; 4Division of Nephrology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | Pt 6 | |
---|---|---|---|---|---|---|
Age at onset | 9 y 6/12 | 3 y 10/12 | 9y 5/12 | 14y 3/12 | 3y 6/12 | 3y 1/12 |
Joints | Yes | Yes | Yes | No | Yes | Yes |
Abdominal | Yes | Yes | Yes | No | Yes | Yes |
Pulmonary | No | Yes | Yes | No | No | No |
Renal | Yes | Yes | Yes | Yes | No | No |
Antibody anti-C1q | + | + | + | + | + | + |
Anti-dsDNA | absent | absent | absent | absent | absent | absent |
C3 (nv 90-180 mg/dl)/C4 (nv 10-40 mg/dl) | 57/7 | 63/6 | 52/2 | 57/7 | 19/1 | 57/1 |
DNASE1L3 variant | + | + | Ongoing | + | - | - |
P1096 A case of idiopathic recurrent pericarditis treated with anakinra but unresponsive to canakinumab
Francesca Ricci, Silvia Ghetti, Rossana Razza, Camilla Dallavilla, Giulia Verzura, Alessandra Manerba, Marco Cattalini
University of Brescia and Spedali Civili di Brescia, Pediatric Clinic, Brescia, Italy
P1097 Efficacy of canakinumab as first-line biologic agent in adult-onset still’s disease
Giulio Cavalli, Alessandro Tomelleri, Corrado Campochiaro, Elena Baldissera, Giacomo De Luca, Lorenzo Dagna
Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UniRAR), Vita-Salute San Raffaele University, Milan, Italy
P1098 CARRA autoinflammatory disease network development- improving care and fostering research in systemic autoinflammatory diseases (SAIDS)
Julie Cherian1, Theresa L. Wampler Muskardin2, Marinka Twilt3, Ronald M. Laxer4, Jonathon S. Hausmann5, Cagri Yildirim-Toruner6, Maria J. Gutierrez7, Nadine Saad8, Grant S. Schulert9, Evan J. Propst10, Greg Licameli11, Akaluck Thatayatikom12, Gil Amarilyo13, Liora Harel14, Ian C. Michelow15, Peter F. Wright16, Yuriy Stepanovskiy17, Lakshmi N. Moorthy18, Karen Durrant19, Polly J. Ferguson20, Lori B. Tucker21, Fatma Dedeoglu22, Sivia K. Lapidus23 and CARRA Autoinflammatory Network Development Work Group
1Pediatrics, Stony Brook Children’s Hospital,Stony Brook, NY; 2Medicine and Pediatrics, NYU School of Medicine, NY, United States; 3Pediatrics, Alberta Children's Hospital, Calgary, AB; 4Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; 5Pediatrics, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Boston, MA; 6Pediatrics, Nationwide Children's Hospital, Columbus, OH; 7Pediatrics, Johns Hopkins University School of Medicine, Baltimore; 8Pediatrics, Hospital for Special Surgery, NY; 9Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH, United States; 10Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; 11Otolaryngology, Boston Children's Hospital, Boston, MA; 12Pediatrics, University of Florida, Gainesville, FL, United States; 13Pediatrics, Schneider Hospital, Tel Aviv University; 14Pediatrics, Schneider Hospital,Tel Aviv University , Tel Aviv, Israel; 15Pediatrics, Alpert Medical School of Brown University, Providence, RI; 16Pediatrics, Dartmouth-Hitchcock Medical Center,NH, United States; 17Shupyk National Medical Academy of Postgraduate Education, Kyiv, Ukraine; 18Pediatrics, Rutgers/RWJ Medical School, New Brunswick, NJ; 19Pediatrics, Kaiser Permanente San Francisco Medical Center, San Francisco, CA; 20Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, United States; 21Pediatrics, BC Children's Hospital, UBC Vancouver, BC, Canada; 22Pediatrics, Boston Children's Hospital, Boston, MA; 23Pediatrics, Joseph M. Sanzari Children's Hospital Hackensack Meridian Health, Hackensack, NJ, United States
P1099 The Helios (Hacettepe University Electronic Research Forms) registry: use of biologic drugs in autoinflammatory diseases
Selcan Demir1, Ezgi D. Batu1, Fuat Akal2, Erdal Sağ1, Ummusen Kaya Akca1, Elif Arslanoğlu Aydın3, Emil Aliyev3, Kübra Yüksel3, Armağan Keskin3, Yelda Bilginer1, Seza Ozen1
1Department of Pediatric Rheumatology, Hacettepe University, Medical Faculty; 2Department ofComputer Engineering, Hacettepe University; 3Department of Pediatrics, Hacettepe University, Medical Faculty, Ankara, Turkey
P1100 Pediatric Behcet’s disease with sinus venous thrombosis: three center experience from Turkey
Selcan Demir1, Ceyhun Açarı2, Özge Basaran3, Erdal Sağ1, Yelda Bilginer1, Şevket Erbil Ünsal2, Seza Ozen1
1Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara; 2Department of Pediatric Rheumatology, Dokuz Eylül University Faculty of Medicine, İzmir; 3Department of Pediatric Rheumatology, Ankara Child Health and Disease Hematology Oncology Training and Research Hospital, Ankara, Turkey
P1101 PFAPA- the Irish experience in a tertiary autoinflammatory clinic
Ana-Louise Hawke1, Jayne MacMahon1, Emma Jane MacDermott1, Karina Butler2, Ronan Leahy3, Patrick Gavin2, Orla Killeen1
1Paediatric Rheumatology; 2Paediatric Infectious Disease; 3Paediatric Immunology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
Associated Symtoms: | Stomatitis | 8 | |||
Tonsillitis/Pharyngitis | 8 | ||||
Cervical Adenitis | 7 | ||||
Lethargy | 6 | ||||
Rash | 4 | ||||
Anorexia | 4 | ||||
GI upset | 12 | ||||
Periodicity of disease flare | <2 weeks | 1 patient | Flare Duration | 2-3 days | 5 patients |
2-4 weeks | 10 patients | 4-5 days | 7 patients | ||
4-6 weeks | 2 patients | 6-7 days | 1 patient |
Systemic-onset JIA and AOSD
P1102 Hepatitis A virus vaccination in autoinflammatory diseases under canakinumab and tocilizumab treatment
Kenan Barut1, Amra Adrovic1, Sezgin Sahin1, Mehmet Yıldız1, Oya Koker1, Gamze Yalcin1, Omer Faruk Beser2, Bekir Kocazeybek3, Pelin Yuksel3, Ozgur Kasapcopur1
1Pediatric Rheumatology, Istanbul University Cerrahpasa, Cerrahpasa Medical School; 2Pediatric Gastroenterology, Okmeydani Education and Training Hospital; 3Microbiology, Istanbul University Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey
P1103 Risk score of macrophage activation syndrome in patients with systemic juvenileidiopathic arthritis
Simone Carbogno1, Denise Pires Marafon2, Giulia Marucci3, Manuela Pardeo3, Antonella Insalaco3, Virginia Messia3, Emanuela Sacco3, Fabrizio De Benedetti3, Claudia Bracaglia3
1Pediatric Area, University of Milan; 2Pediatric Unit, Fondazione IRCCS Ca’ Grande Ospedale Maggiore Policlinico, Milan; 3Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
Laboratory parameters | Cut-off | Rate |
---|---|---|
Ferritin (ng/ml) | >900 | 1 |
AST (UI/L) | >35 | 1 |
LDH (UI/l) | >550 | 1 |
gammaGT (UI/L) | >30 | 2 |
Triglycerides (mg/dl) | >150 | 2 |
Sensitivity (Se) | 0.950 | CI95% 0.842-0.988 |
Specificity (Sp) | 0.879 | CI95% 0.753-0.948 |
Positive predictive value (PPV) | 0.826 | CI95% 0.692-0.912 |
Negative predictive value (NPV) | 0.967 | CI95% 0.865-0.995 |
P1104 Adult onset Still’s disease complicated with haemophagocytic syndrome: successfull treatment with IVIG and Tocilizumab
Ayse Cefle, Fatma Tuncer, Ayten Yazici
Department of Internal Medicine Division of Rheumatology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
P1105 Drug retention rate and predictive factors of drug survival for interleukin-1 inhibitors in systemic juvenile idiopathic arthritis
Carla Gaggiano1, Jurgen Sota2, Antonella Insalaco3, Rolando Cimaz4, Maria Alessio5, Marco Cattalini6, Romina Gallizzi7, Maria Cristina Maggio8, Giuseppe Lopalco9, Francesco La Torre10, Claudia Fabiani11, Manuela Pardeo3, Alma Nunzia Olivieri12, Paolo Sfriso13, Carlo Salvarani14, Salvatore Grosso1, Claudia Bracaglia3, Fabrizio De Benedetti3, Donato Rigante15, Luca Cantarini2
1Clinical Pediatrics, Department of Molecular Medicine and Development; 2Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena; 3Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; 4Rheumatology Unit, Meyer Children's Hospital, University of Florence, Florence; 5Department of Pediatrics, University of Naples Federico II, Naples; 6Pediatric Clinic, University of Brescia, Brescia; 7Department of Pediatrics, Azienda Ospedaliera Universitaria Policlinico “G. Martino”, University of Messina, Messina; 8Universitary Department “Pro.S.A.M.I.”, University of Palermo, Palermo; 9Rheumatology Unit, Department of Emergency and Organ Transplantation, University of Bari, Bari; 10Pediatric Rheumatology Section, Pediatric Oncoematology Unit, Vito Fazzi Hospital, Lecce; 11Ophthalmology Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Siena; 12Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Naples; 13Rheumatology Unit, Department of Medicine, University of Padua, Padua; 14Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia; 15Institute of Pediatrics, Periodic Fever Research Center, Università Cattolica Sacro Cuore, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy
P1106 Clinic-laboratory profile of macrophage activation syndrome in children with systemic juvenile idiopathic arthritis
Sandesh Guleria1, Johnson Nameirakpam1, Anjani Gummadi1, Anju Gupta1, Amit Rawat1, Prateek Bhatia2, Deepti Suri1, Surjit Singh1
1Pediatric Allergy and Immunology; 2Pediatric Hemato-Oncology, Postgraduate Instiute of Medical Education and Research, Chandigarh, Chandigarh, India
Variables | No. of patients | Mean + SD (n=15) |
---|---|---|
Anaemia | 15 (100%) | 84 + 19 g/L |
Leucopenia | 2 (13.3 %) | 14.2 + 11.7 x 109/L |
Elevated CRP | 15 (100%) | 99.5 + 63.3 mg/L |
Platelet < 181 x 109/L | 6 (40%) | 283.5 + 182.4 x 109/L |
Elevated AST | 11 (73.3%) | 136.3 + 137.3 IU/L |
Elevated ALT | 6 (40%) | 109.6 + 101.3 IU/L |
Hypofibrinogenemia (<3.6 g/L) | 11 (73.3%) | 323 + 189 mg/dl |
Hypertriglyceridemia(>156 mg/dl) | 14 (93.3%) | 235.9 + 132 mg/dl |
Hyperferritinemia (ng/ml) | 15 (100%) | 8960.6 + 13662.12 |
P1107 Serum soluble CD25: an useful biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis
Sandesh Guleria1, Anju Gupta1, Amit Rawat1, Prateek Bhatia2, Avinash Sharma1, Deepti Suri1, Surjit Singh1
1Department of Pediatrics, Division of Allergy and Immunology; 2Department of Pediatrics, Division of Hemato-oncology, Postgraduate Instiute of Medical Education and Research, Chandigarh, Chandigarh, India
P1108 Patient with CASP1 variant with severe systemic JIA and recurrent MAS treated by dual blockade with anakinra and tocilizumab
Troels Herlin1, Sofie E. Jørgensen2, Mette Christiansen3, Sofie E. Jørgensen2, Christian Høst1, Sofie E. Jørgensen2, Christian Høst1, Mette Christiansen3, Christian Høst1, Mette Christiansen3, Dorte A. Larsen4, Mia Glerup1, Dorte A. Larsen4, Trine H. Mogensen5, Birgitte Mahler1, Trine H. Mogensen5, Trine H. Mogensen5
1Pediatrics, Aarhus University Hospital; 2Biomedicine, Aarhus University; 3Clinical Immunology; 4Ophthalmology; 5Infectious diseases, Aarhus University Hospital, Aarhus , Denmark
P1109 Validation and clinical application of MRP8/14 serum levels as biomarker for the diagnosis of systemic juvenile idiopathic arthritis in fever of unknown origin
Carolin Pretzer1, María Miranda-Garcia1, Rainer Berendes2, Gerd Horneff3, Jasmin Kuemmerle-Deschner4, Gerd Ganser5, Hans-Iko Huppertz6, Kirsten Minden7, Johannes-Peter Haas8, Annette Jansson9, Michael Borte10, Catharina Schuetz11, Prasad Oommen12, Michael Frosch13, Christoph Kessel1, Bernhard Schlueter14, Annette Richter-Unruh15, Helmut Wittkowski1, Johannes Roth16, Dirk Foell1, Dirk Holzinger17
1Department of Pediatric Rheumatology and Immunology, University Hospital Children’s Muenster, Muenster; 2St. Marien Children's Hospital, Landshut; 3Asklepios Clinic Sankt Augustin, Sankt Augustin; 4University Children's Hospital Tuebingen,, Tuebingen; 5St. Josef-Stift Sendenhorst Hospital, Sendenhorst; 6Prof.-Hess Children's Hospital and Gesundheit Nord Klinikverbund Bremen, Bremen; 7Charité University Medicine and Epidemiology Unit, German Rheumatism Research Centre, Berlin; 8German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen; 9Department of Rheumatology and Immunology, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich; 10Paediatric Rheumatology, Immunology and Infectiology, Hospital St. Georg, Leipzig; 11Department of Pediatrics and Adolescents Medicine, University Hospital Ulm, Ulm; 12Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Duesseldorf; 13German Pediatric Pain Centre, Children's and Adolescents’ Hospital, Datteln; 14Center for Laboratory Medicine, University Hospital Muenster; 15Department of Paediatrics, University of Muenster; 16Institute of Immunology, University Hospital Muenster, Muenster; 17Department of Pediatric Hematology-Oncology, University Hospital Essen, Essen, Germany
P1110 Do juvenile idiopathic arthritis patients with systemic onset in the risk of low anti-vaccine antibody: the preliminary report?
Natalya Lubimova1, Olga Goleva2, Irina Fridman2, Margarita Dubko3, Vera Masalova3, Ludmila Snegireva3, Eugenia Isupova3, Ekaterina Gaidar3, Andrey Santimov3, Olga Kalashnikova3, Susanna Kharit2,3, Mikhail Kostik3
1Children’s City Hospital#2 n.a. St. Mary Magdalene; 2Pediatric Research and Clinical Center for Infection Diseases; 3Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation
Parameter | soJIA (n=7) | Non-systemic JIA (n=82) | P |
---|---|---|---|
JIA duration, years | 3.0 (1.6; 5.1) | 4.9 (2.9; 8.3) | 0.019 |
Systemic corticosteroids, n (%) | 7 (100 | 20 (24) | 0.000007 |
Metotrexate, n (%) | 7 (100.0) | 75 (91) | 0.41 |
Biologics, n (%) | 7 (100.0) | 47 (57) | 0.019 |
Anti-measels IgG, Me/ml | 0.18 (0.0; 1.64) | 0.17 (0.0; 0.45) | 0.649 |
Anti-parotitis IgG, Me/ml | 1.3 (0.0; 5.1) | 2.7 (1.0; 5.0) | 0.373 |
Anti-diphtheria IgG, Me/ml | 0.04 (0.0; 0.2) | 0.13 (0.03; 0.3) | 0.231 |
Anti-hepatitis B IgG level, Me/ml | 0.9 (0.0; 10.2) | 11.6 (0.0; 41.9) | 0.231 |
Anti-rubella IgG, Me/ml | 200.0 (18.4; 200.0) | 57.7 (33.4; 98.0) | 0.618 |
P1111 Have patients with juvenile idiopathic arthritis patients with systemic onset particular features for monocyclic course?
Mikhail Kostik, Maria Rumyantseva, Eugenia Isupova, Irina Chikova, Margarita Dubko, Vera Masalova, Ludmila Snegireva, Tatyana Kornishina, Tatyana Likhacheva, Ekaterina Gaidar, Andrey Santimov, Olga Kalashnikova
Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation
Parameter | AUC (95%CI) | Se | Sp | OR (95% CI) | p |
---|---|---|---|---|---|
CRP≤3.1 mg/dl | 0.59 (0.48; 0.69) | 0.53 | 077 | 3.6 (1.3; 10.3) | 0.014 |
ESR≤ 53 mm/h | 0.62 (0.51; 0.71) | 0.9 | 0.43 | 6.8 (1.5; 31.3) | 0.006 |
Ferritin ≤1340 ng/ml | 0.69 (0.58; 0.79) | 1.0 | 0.46 | - | 0.003 |
Active joints < 8 | 0.5 (0.4; 0.6) | 0.82 | 0.39 | 4.6 (1.3; 16.8) | 0.013 |
Onset age <7 years | 0.57 (0.47; 0.66) | 0.86 | 0.4 | 4.2 (1.5; 15.3) | 0.022 |
No elbow involvement, n (%) | - | 0.96 | 0.31 | 9.4 (1.2; 73.6) | 0.012 |
P1112 Single center experience of biological therapy in patients with systemic juvenile idiopathic arthritis associated with macrophage activation syndrome
Maria I. Kaleda, Irina P. Nikishina
Pediatrics, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russian Federation
Characteristics | All patients with sJIA (102) | Patients with sJIA and MAS (29) |
---|---|---|
Girls /boys (girls to boys ratio) | 59/43 (4:3) | 18/11 (5:3) |
The median age at onset, months | 45.5 [26.0; 69.5] | 31.0 [18.0; 69.0] |
The median disease duration prior to treatment with BA, months | 26.5 [9.2; 62.3] | 11 [3.0; 30.1] |
Number of systemic manifestations | 3.9 [2.7; 4.5] | 4.8 [3;6] |
Pts with rash, % | 56 | 100 |
Number of active joints | 12 [5; 25] | 8 [3; 18] |
Unusual or unsolved case reports
P1113 Behect disease in pediatrics; a solitary sign can be enough
Hanan M. Abd El-Lateef
Pediatric Rheumatology Immunology department, Ain Shams University, Cairo, Egypt
P1114 Childhood pyoderma gangrenosum: diagnostic challenges and managements of two cases from Libya
Awatif Abushhaiwia1, Nairuz Abushhiwa2, Mohammed Kamel3, Lailasabei4, Mabruka Zletni5, Hafsa Dawi6
1Pediatric Rheumatology, Tripoli Children’s Hospital; 2Pathology, Tripoli Faculty of Medicine, Tripoli, Libya; 3Adult Rheumatology, Dr Fakhry Hospital, Alkhobar, Saudi Arabia; 4Community Medicine, Tripoli Faculty of Medicine; 5Pediatric Rheumatology, Tripoli Children’s Hospital; 6Dermatology, Central Tripoli Hospital, Tripoli, Libya
P1115 A girl with a developmental delay and Lupus-like phenotype associated with both neuroblastoma and an MDA5 gain-of-function mutation (Aicardi-Goutières Syndrome 7, AGS7)
Stefan Berg1, Dara McCreary2, Gunilla Drake af Hagelsrum3, Nina Björkander3, Despina Eleftheriou2
1Pediatric Immunology and Rheumatology, The Queen Silvia Children's Hospital, Gothenburg, Sweden; 2UCL GOS Institute of Child Health, London, United Kingdom; 3Pediatric Neurology, The Queen Silvia Children's Hospital, Gothenburg, Sweden
P1116 Cold urticaria associated with a novel Phospholipase-Gamma-C2 (PLCƔ2) mutation
Hanna Bonnekoh1,2, Niklas AMahnke1,2, Jörg Scheffel1,2, Marcus Maurer1,2, Karoline Krause1,2
1Department of Dermatology and Allergy; 2Autoinflammation Reference Center Charité (ARC2), Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
P1117 Missense variants in SERPINF1 are associated with a novel auto-inflammatory disease presenting with persistent fever and multifocal neutrophilic periostitis
Marta Bustaffa1, Marta Rusmini2, Marco Cattalini3, Sara Signa1, Riccardo Papa1, Alice Grossi2, Roberta Caorsi1, Stefano Volpi1, Paolo Picco4, Alessandro Plebani3, Angelo Ravelli4, Nicoletta Zoppi5, Marco Ritelli5, Marina Colombi5, Maja Di Rocco4, Isabella Ceccherini2, Marco Gattorno1
1International Center for Autoinflammatory Disease and Primary Immunodeficiencies - Clinics of Pediatrics and Rhumatology; 2UOC of Genetics, G. Gaslini Institute, Genova; 3Clinica Pediatrica, Univerity of Brescia, Brescia; 4Clinics of Pediatrics and Rhumatology, G. Gaslini Institute, Genova; 5Division of Biology and Genetics, Department of Molecular and Translational Medicine, Univerity of Brescia, Brescia, Italy
P1118 Late-onset SAPHO syndrome revealing chronic myelomonocytic leukemia
Laura Damian1, Simona Grad2, Felicia Mustatea1, Bianca Balan1, Gheorghe Cobzac3, Calin Bolosiu4, Liliana Bene5, Adrian Trifa6, Delia Dima7, Adriana Albu8
1Rheumatology, Emergency Clinical County Hospital Cluj; 2Gastroenterology, “Iuliu Hatieganu” University of Medicine Cluj; 3Nuclear Medicine; 4Radiology; 5Immunology, Emergency Clinical County Hospital Cluj; 6Genetics, “Iuliu Hatieganu” University of Medicine Cluj; 7Hematology, “I. Chiricuta” Oncologic Institute; 82nd Internal Medicine , “Iuliu Hatieganu” University of Medicine Cluj, Cluj-Napoca, Romania
P1119 Bloody stools and cryopyrin-associated periodic syndrome (CAPS)-- association or coincidence?
Mariana Correia Marques1, Jonathan S. Hausmann1,2, Edwin Anderson1, Fatma Dedeoglu1
1Boston Children's Hospital, 2Beth Israel Deaconess Medical Center, Boston, United States
P1120 The challenge of treating pulmonary vasculitis in Behçet’s disease: two pediatric cases and literature review
Selcan Demir1, Erdal Sağ1, Ümmüşen Kaya Akca1, Tuncay Hazırolan2, Yelda Bilginer1, Seza Ozen1
1Pediatric Rheumatology; 2Radiology, Hacettepe Medical Faculty, Ankara, Turkey
P1121 Late diagnosis of cryopyrin-associated periodic syndrome - without gene confirmation - is there any other explanation?
Raquel Faria1, António Lamas2, Ana Campar1, Graziela Carvalheiras1
1Unidade de Imunologia Clínica – CHUPorto; 2Serviço de Medicina - CHUPorto, Porto, Portugal
P1122 Late onset of tumor necrosis factor receptor associated periodic syndrome (TRAPS) due to somatic mosaicism
Raquel Faria1, Luís Magalhães2, Daniel Oliveira1, António Marinho1, Ana Campar1
1Unidade de Imunologia Clínica – CHUPorto; 2Serviço de Medicina - Hospital da Arrábida, Porto, Portugal
P1123 Hyperzincaemia and hypercalprotectinemia syndrome: more than just autoinflammation?
Andrea Uva1, Claudia Bracaglia1, Silvia Federici1, Camilla Celani1, Manuela Pardeo1, Christoph Kessel2, Fabrizio De Benedetti1, Antonella Insalaco1
1Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy; 2Department of Pediatric Rheumatology & Immunology, University Children’s Hospital, Muenster, Germany
Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Age at 1st evaluation (years) | 14.3 | 7.8 | 4.9 |
Sex | F | F | M |
Clinical features | Recurrent fever, recurrent infection, vasculitis, skin rash, musculoskeletal pain | Hemolitic anemia,thrombocytopenia, HLH, vasculitis, recurrent infections, recurrent fever, arthritis, skin rash, gastrointestinal involvement | Recurrent fever, skin rash, vasculitis, arthritis, musculoskeletalpain |
SAA | 13-23 | 27,5-76,4 | 20 |
Zinchemia(mcg/dl) (n.v. 80-125) | 132-143 | 102-233 | 147 |
Serum MRP8/14 (ng/ml) (n.v. < 2900) | 22431 | 10383 | 10363 |
P1124 Inherited deficit of proteoglycan mimicking septic arthritis
Angelo Florio1, Riccardo Papa1, Roberta Caorsi1, Alessandro Consolaro1, Tuula Rinne2, Roberto Gastaldi3, Angelo Ravelli1, Marco Gattorno1, Paolo Picco1
1Clinica Pediatrica e Reumatologia , IRCCS Istituto Giannina Gaslini, Genova, Italy; 2Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands; 3Clinica Pediatrica ed Endocrinologia, IRCCS Istituto Giannina Gaslini, Genova, Italy
P1125 LRBA deficiency in a patient with chronic arthritis
Şerife Gül Karadağ, Ayşe Tanatar, Mustafa Çakan, Haifize Emine Sönmez, Figen Çakmak, NurayAktay Ayaz
Pediatric Rheumatology, Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey
P1126 Unusual case of recurrent periodic macrophage activation
Khulood Khawaja1, Tawfiq T. Hen2
1Adult and Pediatric Rheumatology, Al-Mafraq Hospital; 2Pediatrics, Shaikh Khalifah Medical City, Abu-Dhabi, United Arab Emirates
P1127 AA amyloidosis in recipients of cadaveric derived pituitary growth hormone – potential effect of an amyloid enhancing factor?
Helen J. Lachmann, Dorota Rowczenio, Janet A. Gilbertson, Hadija Trojer, Islam Noor, Thirusha Lane, Julian D. Gillmore, Ashutosh D. Wechalekar, Philip N. Hawkins
National Amyloidosis Centre, UCL Division of Medicine and Royal Free Hospital NHS Foundation Trust, London, United Kingdom
P1128 Progressive necrotic ulcerative lesions: challenging diagnosig?
Angela Mauro1, Francesca Orlando2, Maria Tardi3, RobertoRega3, Martemucci Luigi3, Rita Sottile3
1Pediatrics, Rheumatology Unit, Department of Pediatrics, “Santobono-Pausilipon” Children Hospital, Naples, Italy; 2 Pediatrics; 3Pediatrics, Rheumatology Unit, Department of Pediatrics, “Santobono-Pausilipon” Children Hospital, Naples, Naples, Italy
P1129 An undefined systemic autoinflammatory disease complicated by MAS or an unidentified primary HLH?
Roberta Naddei1, Francesca Orlando1,2, Carolina Porfito1, Teresa Lastella1, Marinabiondina Amico1, Maria Alessio1
1Pediatric Rheumatology Unit, Mother and Child Department, University of Naples Federico II; 2Department of Pediatrics, Santobono-Pausilipon Children’s Hospital, Naples, Italy
Allied Health Professionals
P1130 Towards European harmonisation of healt care for patients with rare immune disorders: ERN RITA result from the registries survey
Riccardo Papa1, Andrew Cant2, Christoph Klein3, Mark Little4, Nico M. Wulffraat5, Marco Gattorno1, Nicolino Ruperto1 and on behalf of RITA ERN Council
1Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini, Genova, Italy; 2Great North Children's Hospital, & Institute for Cellular Medicine, University of Newcastle, Newcastle upon Tyne, United Kingdom; 3Department of Pediatrics, Ludwig-Maximilians-University Munich, Munich, Germany; 4Department of Nephrology and Kidney Transplantation, Beaumont Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland; 5Department of Pediatrics, Section Pediatric Rheumatology, Wilhelmina Children's Hospital, University Medical Centrum Utrecht, Utrecht, Netherlands
Poster presentations – Tuesday 2 April
Guided poster tour 2A
PT2A01 The French pediatric cohort of castleman disease
Charlotte Borocco1,2, Claire Ballot-Schmit3, Oanez Ackermann4, Nathalie Aladjidi5, Jeremie Delaleu6, Vannina Giacobbi-Milet7, Sarah Jannier8, Eric Jeziorski9, Yves Perel5, François Maurier10, Christophe Piguet11, Eric Oksenhendler12,13, Isabelle Kone-Paut1,2,14, Caroline Galeotti1,2,14
1Pediatric Rheumatology; 2CEREMAIA, Bicetre Hospital, Le Kremlin-Bicêtre; 3General Pediatrics, Jean Minjoz Hospital, Besançon; 4Pediatric hepatology, Bicetre Hospital, Le Kremlin-Bicêtre; 5Pediatric Oncology and Hematology, Pellegrin Hospital, Bordeaux; 6Internal Medicine, Tenon Hospital, Paris; 7Pediatric Oncology and Hematology, Le Mans Hospital, Le Mans; 8Pediatric Oncology and Hematology, Hautepierre Hospital, Strasbourg; 9General Pediatrics, Arnaud de Villeneuve Hospital, Montpellier; 10Internal Medicine, Metz Private Hospital, Metz; 11Pediatric Oncology and Hematology, Limoges Hospital, Limoges; 12Clinical Immunology, Saint-Louis Hospital; 13National Reference Center for Castleman Disease, Paris; 14National Reference Center for Castleman Disease, Le Kremlin-Bicêtre, France
PT2A02 Use of whole-body magnetic resonance to identify potential diagnostic clues in children with fever of unknown origin (FUO)
Sara Signa1,2, Roberta Caorsi1, Giorgio Stagnaro3, Francesca Minoia1, Paolo Picco1, Angelo Ravelli1,2, GM Magnano3, Maria B. Damasio3, Marco Gattorno1
1Clinics of Pediatrics and Rheumatology, G.Gaslini Institute; 2DINOGMI, University of Genoa; 3UO of Radiology, G.Gaslini Institute, Genoa, Italy
PT2A03 A biomarker profile including S100A12 as diagnostic tool for the differential diagnosis of sJIA-associated MAS vs. primary or secondary HLH
Christoph Kessel1, Ndate Fall2, Alexei Grom2, Wilco de Jager3, Sebastiaan Vastert4, Raffaele Strippoli5, Claudia Bracaglia6, Erik Sundberg7, Anna Horne8, Stephan Ehl9, Sandra Ammann9, Kai Lehmberg10, Fabrizio De Benedetti6, Helmut Wittkowski1, Katharina Kessel1, KarinBeutel11, Dirk Foell1, Dirk Holzinger12
1Pediatric Rheumatology and Immunology, University Children’s Hospital, Muenster, Germany; 2Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, United States; 3Laboratory of Translational Immunolgy, Utrecht Medical Center; 4Pediatric Rheumatology and Immunology, University Medical Center Utrecht, Utrecht, Netherlands; 5Cellular Biotechnology and Hematology, Sapienza University of Rome; 6UO Reumatologia, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy; 7Paediatric Rheumatology Unit; 8Childhood Cancer Research Unit, Karolinska University Hospital Solna, Stockholm, Sweden; 9Center for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg; 10Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg; 11Pediatric Hematology and Oncology, Children’s Hospital, TU Munich, Munich; 12Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany
PT2A04 Early treatment with anakinra in systemic juvenile idiopathic arthritis
Manuela Pardeo, Claudia Bracaglia, Anna Tulone, Antonella Insalaco, Giulia Marucci, Rebecca Nicolai, Virginia Messia, Emanuela Sacco, Fabrizio De Benedetti
Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
PT2A05 Antibodies to collagen V and K-Α 1 tubulin in a patient with systemic juvenile idiopathic arthritis associated lung disease
Elena Tronconi1, Thalachallour Mohanakumar2, Lara Danziger-Isakov3, Grant Schulert1, Alexei Grom1
1Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati; 2Norton Thoracic Institute Research Laboratory, St. Joseph’s Hospital and Medical Center, Phoenix; 3Division of Infectious Diseases, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, United States
PT2A06 Recurrent fever, recurrent pyoderma gangrenosum-like and bacterial infections due to a novel homozygous WDR1 mutation in a child treated with allogeneic hematopoietic stem cell transplantation
Estibaliz Iglesias1, Monica Roldan2, Alexandru Vlagea3, Manuel Solís-Moruno4, Juan Manuel Mosquera1, Violeta Bitterman1, Joan Calzada-Hernández1, Laia Alsina5, Angela Deyà-Martinez5, Rocío Lara3, Maria Carmen Anton3, Susana Plaza3, Helios Martínez-Banaclocha6, María Trabazo7, Georgina Morón7, Manel Juan3, Jordi Yagüe3, Ferran Casals8, Isabel Badell7, Claudia Fortuny9, Asunción Vicente10, Jordi Anton1, Pablo Pelegrin6, Juan I. Aróstegui3, Anna Mensa-Vilaro3
1Pediatric Rheumatology; 2Confocal Microscopy Unit, Hospital Sant Joan de Déu, Esplugues; 3Immunology, Hospital Clinic; 4Experimental and Health Sciences, Pompeu Fabra University, Barcelona; 5Clinical Immunology Unit, Hospital Sant Joan de Déu, Esplugues; 6Instituto Murciano de Investigación Biosanitaria IMIB-Arrixaca, Murcia; 7Pediatric BMT Unit, Hospital de Sant Pau; 8Genomics, Pompeu Fabra University, Barcelona; 9Pediatrics; 10Pediatric Dermatology , Hospital Sant Joan de Déu, Esplugues, Spain
Guided poster tour 2B
PT2B01 Adenosine deaminase 2 deficiency: correction of the immune defects by gene therapy
Immacolata Brigida1, Matteo Zoccolillo1,2, Raisa Jofra Hernandez1, Lucia Sergi Sergi1, Giulia Milardi1,3, Federica Barzaghi2,4, Luigi Naldini1,3, Maria Pia Cicalese1,3,4, Alessandro Aiuti1,3,4, Alessandra Mortellaro1
1San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan; 2Tor Vergata University, Department of Systems Medicine, Rome; 3Vita-Salute San Raffaele University; 4Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy
PT2B02 Analysis of the efficacy of treatment on 45 patients with deficiency of adenosine deaminase 2
Amanda K. Ombrello1, Deborah L. Stone1, Karyl Barron2, Patrycja M. Hoffmann1, Cornelia Cudrici3, Anne Jones1, Tina Romeo1, Dimana Dimitrova4, Amit Dotan5, Donna Wall5, Monica Thakar6, Jennifer Kanakry4, Daniel Kastner1
1NHGRI; 2NIAID; 3NHLBI; 4NCI, NIH, Bethesda, United States; 5Hospital for Sick Children, Toronto, Canada; 6Fred Hutchinson Cancer Research Center, Seattle, United States
PT2B03 Long-term retention rate of anakinra in adult onset Still’s disease and predictive factors for treatment response
Antonio Vitale1, Giulio Cavalli2, Serena Colafrancesco3, Roberta Priori3, Guido Valesini3, Lorenza Maria Argolini4, Elena Baldissera2, Elena Bartoloni5, Daniele Cammelli6, Giovanni Canestrari7, Jurgen Sota1, Elena Cavallaro8, Maria Grazia Massaro9, Piero Ruscitti10, Paola Cipriani10, Ginevra De Marchi8, Salvatore De Vita8, Giacomo Emmi6, Gianfranco Ferraccioli7, Micol Frassi11, Roberto Gerli5, Elisa Gremese7, Florenzo Iannone12, Giovanni Lapadula12, Giuseppe Lopalco12, Raffaele Manna9, Alessandro Mathieu13, Carlomaurizio Montecucco14, Marta Mosca15, Ilaria Piazza16, Matteo Piga13, Irene Pontikaki4, Micol Romano4, Silvia Rossi14, Maurizio Rossini16, Elena Silvestri6, Chiara Stagnaro15, Rosaria Talarico15, Angela Tincani11, Ombretta Viapiana16, Gianfranco Vitiello6, Paola Galozzi17, Paolo Sfriso17, Carla Gaggiano18, Donato Rigante19, Lorenzo Dagna2, Roberto Giacomelli10, Luca Cantarini1 and “Working Group” of Systemic Autoinflammatory Diseases of SIR (Italian Society of Rheumatology)
1Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease Clinic Surgery and Neurosciences, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena; 2Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Scientific Institute, Milan; 3Department of Internal Medicine and Medical Specialties, Sapienza University of Rome, Rome; 4Division of Rheumatology, ASST Gaetano Pini, Milan; 5Rheumatology Unit, Department of Medicine, University of Perugia, Perugia; 6Department of Experimental and Clinical Medicine, University of Firenze, Firenze; 7Institute of Rheumatology and Affine Sciences, Division of Rheumatology, Catholic University of the Sacred Heart, Rome; 8Department of Medical and Biological Sciences, Rheumatology Clinic, University of Udine, Udine; 9Periodic Fever Research Center, Institute of Internal Medicine, Catholic University of the Sacred Heart, Fondazione Policlinico A. Gemelli, Rome; 10Department of Biotechnological and Applied Clinical Science, Division of Rheumatology, University of L’Aquila, L'Aquila; 11Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, Brescia; 12Rheumatology Unit,Department of Emergency and Organ Transplantation, University of Bari, Bari; 13Rheumatology Unit, Department of Medical Sciences, University and AOU of Cagliari, Cagliari; 14Department of Rheumatology, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia; 15Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa; 16Rheumatology Unit, Department of Medicine, University of Verona, Verona; 17Department of Medicine DIMED, Rheumatology Unit, University of Padua, Padua; 18Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Siena; 19Institute of Pediatrics, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Rome, Italy
PT2B04 The anti-inflammatory cytokine interleukin 37 is an endogenous inhibitor of trained immunity
Giulio Cavalli1,2, Mark Gresnigt3, Travis Nemkov4, Rob Arts2, Angelo D'Alessandro4, Silvia Giugliano5, Elan Eisenmensser4, Lorenzo Dagna1, Leo Joosten2, Mihai Netea2, Charles Dinarello2,6
1Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UniRAR), Vita-Salute San Raffaele University, Milan, Italy; 2Department of Medicine, Radboud university Medical Centre, Nijmegen, Netherlands; 3Microbial Pathogenicity Mechanisms, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany; 4Department of Biochemistry and Molecular Genetics, University of Colorado Denver, Aurora, CO, United States; 5Mucosal Immunology and Microbiota Unit, Humanitas University, Rozzano, Italy; 6Department of Medicine, University of Colorado Denver, Aurora, CO, United States
PT2B05 Interleukin 18 gene expression by human monocytes is controlled by type I interferon
Emely Verweyen1, Dirk Holzinger2, Helmut Wittkowski1, Peter Pickkers3, Dirk Foell1, Christoph Kessel1
1Pediatric Rheumatology and Immunology, University Children's Hospital, Muenster; 2Child and Adolescent Medicine, University Hospital, Essen, Germany; 3Intensive Care Medicine, Radboud University Medical Center, Nijmegen, Netherlands
PT2B06 Glycogen synthase kinase 3B regulates TLR3-mediated antiviral response
Ryeojin Ko, Soo Young Lee
Department of Life Science and the Research Center for Cellular Homeostasis, Ewha Womans University, Seoul, Korea, Republic Of
PT2B07 Anticytokine therapy is successful inprevention and treatment OFBCG-associated inflammatory syndrome (IS) after hematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiencies (SCID)
Alexandra Laberko1, Irina Shipitsina2, Svetlana Rodigina2, Sergei Blagov2, Daria Yukhacheva1, Elena Deripapa1, Anna Kozlova1, Yulia Rodina1, Larisa Shelikhova2, Dmitrii Balashov2, Anna Shcherbina1
1Immunology; 2Hematopoietic Stem Cell Transplantation, National Medical Research Center of Hematology, Oncology and Immunology Named After D. Rogachev, Moscow, Moscow, Russian Federation
PT2B08 Allogeneic haematopoietic stem cell transplantation (HSCT) outcome in immunedysregulation and rheumatologic patients: a single center 19 years experience
Sara Signa1,2, Andrew Gennery1, Sophie Hambleton1, Terence Flood1, Andrew Cant1, Mario Abinun1, Mary Slatter1
1Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust and Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle upon Tyne University, Newcastle upon Tyne, United Kingdom; 2University of Genoa and Center for Autoinflammatory Diseases and Immunodeficiencies-Clinics of Pediatrics and Rheumatology , G.Gaslini Institute, Genoa, Italy
PT2B09 Global profiling and molecular characterization of the autoantibody repertoire in APECED
JohnM. Lindner1, Alexander Krämer1, Xavier Leber1, Valerie Caballero1, Frank Kolbinger1, Michail S. Lionakis2, Steven Holland2, Elisabetta Traggiai1
1Novartis Institutes for BioMedical Research, Basel, Switzerland; 2National Institutes of Health, Bethesda, United States
Monogenic autoinflammatory diseases (clinical)
P2001 In vitro NLRP3 inflammasome activation assay assists diagnosis of genetically negative CAPS patients and guides anti-IL1 therapy
Leonardo O. Mendonca1,2,3, Myrthes T. Barros2, Tereza Robazzi4, Pedro F. Giavina-Bianchi2, Francesco Caroli5, Alice Grossi5, Jorge Kalil2, Fabio F. Morato Castro2, Isabella Ceccherini5, Marco Gattorno6, Alessandra Pontillo3
1International Center for Autoinflammatory Diseases and Primary Immunodeficienceis, Istituto Giannina Gaslini, Genoa, Italy; 2Autoinflammatory Unit, University of São Paulo, School of Medicine; 3Immunogenetics Laboratory, Biomedical Science Institute, University of São Paulo, Sao Paulo; 4Pediatric Rheumatology Unit, School of Medicine of Bahia, Federal University of Bahia, Salvador, Brazil; 5UOC Medical Genetics; 6Center for Autoinflammatory Diseases and Primary Immunodeficienceis, Istituto Giannina Gaslini, Genoa, Italy
P2002 Vaccination safety and coverage in a single cohort of autoinflammatory syndromes in Italy
Leonardo O. Mendonca, Enrica Toniolo, Stefano Volpi, Roberta Caorsi, Marta Bustaffa, Matteo D'Alessandro, Sara Signa, Marco Gattorno
International Center for Autoinflammatory Diseases and Primary Immunodeficienceis, Istituto Giannina Gaslini, Genoa, Italy
P2003 Peripheral T regulatory lymphocytes and apoptosis expression in a large group of autoimmune, multifactorial and autoinflammatory diseases reveals specific clinical manifestations
Leonardo O. Mendonca1, Marta Bustaffa1, Caterina Matucci-Cerinic1, Ignazia Prigione1, Stefano Volpi1, Roberta Caorsi1, Sabrina Chiesa1, Francesca Schena1, Alice Grossi2, Paola Terranova3, Isabella Ceccherini2, Maurizio Miano3, Marco Gattorno1
1International Center for Autoinflammatory Diseases and Primary Immunodeficienceis; 2UOC Medical Genetics; 3Pediatric Hematology Unit, Istituto Giannina Gaslini, Genoa, Italy
P2004 Association of gene polymorphism with autoinflammatory syndromes in patients with palindromic rheumatism and intermittent hydrathrosis
Takako Miyamae, Yumi Tani, Takayuki Kishi, Manabu Kawamoto, Yasushi Kawaguchi, Atsuo Taniguchi, Hisashi Yamanaka
Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan
P2005 Report of 65 patients with SAID in Argentina
Ileana Moreira, Analía G. Seminario, Agostina Llarens, Lina R. Riaño Cardozo, Lorena Regairaz, Liliana Bezrodnik
Immunología, Centro de Inmunología Clínica Dra. Bezrodnik, Buenos Aires, Argentina
P2006 Multisystemic inflammatory disease due to DNASE2 mutations: from physiopathology to new therapeutic approaches
Valentina Moressa1, Alessandra Tesser2, Andrea Trombetta1, Sergio Ghirardo1, Marco Bobbo1, Elisa Piscianz1, Flavio Faletra2, Stefano Volpi3, Alberto Tommasini2, Serena Pastore2, Andrea Taddio2
1University of Trieste, Italy; 2IRCCS Burlo Garofolo, Trieste, Italy, Trieste; 3IRCCS Istituto G. Gaslini, Genova, Italy
P2007 Pregnancy and other gynecological aspects in mevalonate kinase deficiency
Catharina Mulders-Manders, Anna Simon
Radboud University Medical Center, Nijmegen, Netherlands
P2008 Early onset sarcoidosis associated with NOD2 mutation: familial cases report
Roberta Naddei1, Francesca Orlando1,2, Carolina Porfito1, Teresa Lastella1, Marinabiondina Amico1, Maria Alessio1
1Pediatric Rheumatology Unit, Mother and Child Department, University of Naples Federico II; 2Department of Pediatrics, Santobono-Pausilipon Children’s Hospital, Naples, Italy
P2009 Extending the clinical spectrum of Blau syndrome, a case report with liver cirrhosis
Mohammed Nashawi1, Heiko Brennenstuhl1, Barbara Bangol2, Thomas Lutz1
1Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg; 2Genetic Department, Center for Human Genetics and Laboratory Diagnostics, Martinsried, Germany
09/2012 | 01/2013 | 10/2015 | 10/2016 | 09/2017 | ||
---|---|---|---|---|---|---|
Steroid | x | x | x | x | x | |
MTX | x | x | x | x | x | |
Canakinomab | x | x | ||||
Tocilizumab | x | |||||
Etanercept | x | |||||
Adalimumab | x |
P2010 Diagnosis and management of hereditary recurrent fevers: 20-year experience at a single Italian referral centre
Laura Obici1, Grazia Bossi2, Roberto Caporali3, Roberta Mussinelli1, Simona Casarini1, Sara Monti3, Isabella Ceccherini4, Francesco Caroli4, Antonio Vergori2, Eleonora Di Buduo1, Claudia Sforzini1, Marco Gattorno5, Giampaolo Merlini1
1Amyloidosis Research and Treatment Centre; 2Pediatrics Unit; 3Rheumatology Unit, Fondazione IRCCS Policlinico San Matteo, Pavia; 4Medical Genetics Unit; 5Pediatric Rheumatology Unit, IRCCS Giannina Gaslini Institute, Genova, Italy
P2011 RNF213 gene variants in patients with Takayasu arteritis or vasculopathy
Ebun Omoyinmi1, Annette Keylock1, Dara McCreary1, Sarka Fingerhutova2, Pavla Dolezalova2, Seza Ozen3, Sylvia Kamphuis4, Cheryl Hemingway5, Despina Eleftheriou1, Paul Brogan1
1Infection, Inflammation and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; 2Paediatric Rheumatology and Autoinflammatory Diseases Unit, General University Hospital, praha, Czech Republic; 3Department of Paediatric Rheumatology, Hacettepe University, Ankara, Turkey; 4Department of Paediatric Rheumatology, Sophia Children's Hospital, Erasmus University Medical Centre, Rotterdam, Netherlands; 5Paediatric neuroradiology department, Great Ormond Street Hospital for Children NHS foundation Trust, London, United Kingdom
Patient ID | RNF213 variants | Clinical phenotype |
---|---|---|
1 | p.E803G | Behcet's disease/vasculitis |
2-3 | p.D1386N | Case 2; Severe congenital heart disease Case 3; Small vessel vasculitis with evolving autoimmunity |
4 | p.T1705K | lupus –like disease with progressive leukoencephalopathy, presumed small vessel brain disease |
5 | p.P1721L | Bilateral multifocal cerebral vasculopathy |
6 | p.P2905L | Stroke with right side focal lesion |
7 | p.T4155P | Ischaemic stroke |
8 | p.E4865K | Severe vasculopathy with multi-organ involvement including kidneys |
9 | p.T1705K p.I3318V | Left sided hemiplegia and progressive motor function deterioration with perivascular inflammation in brain biopsy |
10 | p.K4732E p.L4901F | Transient ischaemic attack (TIA) |
P2012 Clinical and molecular features of 3 children with neonatal onset multisystem inflammatory disease: an experience from a setting where there is lack of access to anti-IL1 agents
Vignesh Pandiarajan1, Deepti Suri2, Sagar Bhattad1, Anju Gupta1, Amit Rawat1, Raphaela Goldbach-Mansky3, Marco Gattorno4, Surjit Singh1
1Allergy Immunology Unit, Pediatrics; 2Postgraduate Institute of Medical Education and Research, Chandigarh, India; 3Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, United States; 4UO Pediatria II, Istituto G. Gaslini, Genoa, Italy
P2013 Long-term outcomes and treatment efficacy in patients with TNF receptor-associated autoinflammatory syndrome (TRAPS): a series of 290 cases from the Eurofever/EUROTRAPS international registry
Riccardo Papa1, Thirusha Lane2, Taryn Youngstein2, Tamer Rezk2, Charalampia Papadopoulou3, Nicolino Ruperto1, Paul A. Brogan3, Philip N. Hawkins2, Patricia Woo3, Marco Gattorno1, Helen J. Lachmann2
1Paediatric Rheumatology Clinic, IRCCS Giannina Gaslini Institute, GENOVA, Italy; 2National Amyloidosis Centre, Division of Medicine, Royal Free Campus, University College London; 3Department of Infection, Inflammation and Rheumatology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
P2014 A child with Majeed syndrome from India
Pallavi Pimpale Chavan, Raju P. Khubchandani
Pediatric Rheumatology Clinic,Department of Pediatrics, Jaslok Hospital and Research Centre, Mumbai, India
P2015 Spondyloenchondrodysplasia – a case from India
Pallavi Pimpale Chavan1, M Moreews2, Shashi Ranade3, A Belot2, Raju P. Khubchandani1
1Section of Pediatric Rheumatology, Jaslok Hospital and Research Centre, Mumbai, India; 2Pediatric Rheumatology Clinic, National Referee centre RAISE (Rhumatism and AutoImmunity in children) & CIRI, INSERM U1111, Lyon, France, 3Consultant Paediatrician, Ranade Hospital, Karad, India
P2016 Clinical profile of seven children with hereditary complement deficiency from a center in Mumbai, India
Prajakta Ranade1, Y.J. Crow2, Pallavi Pimpale Chavan3, L Seabra4, G Rice5, Raju P. Khubchandani3
1Paediatrics, St John's Medical College Hospital, Mumbai, India; 2Centre for Genomic And Experimental Medicine, Institute of Genetics and Molecular Medicine, Edinburg, United Kingdom; 3Section of Pediatric Rheumatology, Jaslok Hospital and Research Centre, Mumbai, India; 4Neurogenetics and Neuroinflammation, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; 5Division of Evolution and Genomic Science, Manchester Academic Health Science Centre, Manchester, United Kingdom
Serial no/Sex | CSM | Onset (m)/time to diagnosis (m) | Clinical | Positive antibody profile | C3/C4/CH50 | Genetics | Treatment | Follow up (m)/Outcome |
1/F | N | 10/7 | Rash, mucositis, neuroregression | ANA Ds DNA Anti Ro | 175/23/42.1 | Homozygous for a c.606delA / p.Gly204Alafs*78 variant in C1QA | HCQ Sx AZT | 28/Improved |
2/F | Y | 24/24 | Rash, mucositis, arthritis, renal disease, herpes zoster | ANA Anti Ro | 203/73/54 | Homozygous for a c.622C>T / p.Q208* STOP variant in C1QA | HCQ,Sx,AZT,MMF | Death (at 12 years of age) |
3/M | Y | 21/12 | Rash, mucositis, delayed development, hyperreflexia | ANA Ds DNA Anti Ro ACLA IgG | 158/47.7/43 | Homozygous for a c.622C>T / p.Q208* STOP variant in C1QA | HCQ,Sx,AZT | 16/Improved |
4/M | Y | 12/24 | Rash, mucositis, hyperreflexia, seizures | ANA Anti Ro | 117/39/18.6 | Homozygous for a c.171delT / p.Gly58Alafs*224 variant in C1QA | HCQ,Sx,AZT,MMF | 41/Improved |
5/F | Y | 27/4 | Rash, mucositis, neuroregression, hemiparesis, cerebral atrophy, hyperreflexia, hypothyroidism | ANA Anti Ro ACLA IgM Anti TPO | 179/42.8/NA | Homozygous for a c.79C>T / p.Arg27* variant in C1QA | HCQ,Sx,Cyc,AZT | 31/Improved |
6/M | Y | 40/0.5 | Rash’ mucositis | ANA ACLA IgM | 114/NA/NA | Afflicted sibling of Sr no 2 Not tested | HCQ,Sx | 22/Improved |
7/F | Y | 48/36 | Rash, mucositis, arthritis, proteinuria, infections (varicella, scabies, impetigo), hypothyroidism | ANA | 30/NA/35.7 | Demise before testing | HCQ, Sx, Cyc MMF | Death (at 12 years of age) |
P2017 Preliminary results of the Latin-American cohort of auto-inflammatory syndromes
Daniela G. P. Piotto1, Clovis A. Silva2, Katia Kozu2, Ana Luiza Cunha3, Flavia Patricia Santos4, Ana Laura Tolin5, Sheila K. Oliveira6, Simone Appenzeller7, Claudia S. Magalhães8, Marcia Bandeira9, Flavio Sztajnbok10, Carlos NobreRabelo Jr11, Carmen Laurade Cunto12, Cristina De Battagliotti13, Blanca Bica14, P Munittis15, Liliana Bezrodnik16, Marta F. Rodrigues17, Tereza C. Robazzi18, Erica N. Matos19, Ricardo Russo20, Maria Teresa Terreri1
1Division of Rheumatology, Department of Pediatrics, Universidade Federal de Sao Paulo; 2Division of Rheumatology, Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo; 3Division of Rheumatology, Department of Pediatrics, Hospital Infantil João Paulo II, Belo Horizonte; 4Division of Rheumatology, Department of Pediatrics, Universidade Federal de Minas Gerais, São Paulo, Brazil; 5Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics, Hospital Notti, Mendoza, Argentina; 6Division of Rheumatology, Department of Pediatrics, Federal University of Rio de Janeiro, Rio de Janeiro; 7Rheumatology Department, Faculty of Medical Sciences, UNICAMP, Campinas; 8Division of Rheumatology, Department of Pediatrics, Universidade Estadual de São Paulo - Faculdade de Medicina de Botucatu, Botucatu; 9Division of Rheumatology, Department of Pediatrics, Hospital Pequeno Principe, Curitiba; 10Division of Rheumatology, Department of Pediatrics, Hospital Universitário Pedro Ernesto, Rio de Janeiro; 11Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics, Universidade Federal de Fortaleza, Fortaleza, Brazil; 12Division of Rheumatology, Department of Pediatrics, Hospital Italiano, Buenos Aires; 13Division of Rheumatology, Department of Pediatrics, Hospital de niños Dr Orlando Alassia, Santa Fe, Argentina; 14Division of Rheumatology, Department of Pediatrics, Hospital Universitário Clementino Fraga FilhoUniversidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil; 15Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics, Hospital El Cruce, F. Varela; 16Servicio Inmunología HNRG., Hospital de Niños, Buenos Aires, Argentina; 17Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics, Universidade Federal do Rio de Janeiro, Rio de Janeiro; 18Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics,Universidade Federal da Bahia, Bahia; 19Division of Rheumatology, Department of Pediatrics,Hospital Universitário da Faculdade de Medicina da Universidade Federal de Mato Grosso do Sul, Mato Grosso do Sul, Brazil; 20Division of Rheumatology, Department of Pediatrics, Hospital Garrahan, Buenos Aires, Argentina
P2018 Chronic nonbacterial osteomyelitis: report of six cases
Daniela G. P. Piotto1, André Aihara2, Artur Fernandes2, Gabriela Balbi1, Claudio Len1, Maria Teresa Terreri1
1Division of Rheumatology and Unit of Pediatric Rheumatology - Department of Pediatrics; 2Department of Imaging Diagnosis, Universidade Federal de Sao Paulo, São Paulo, Brazil
P2019 Familial Mediterranean fever: strong evidence for a functional effect of E148Q when combined with M694V
Elon Pras1, Ori Eyal1, Yael Shinar2, Mordechai Pras3
1Institute of Human Genetics; 2FMF Clinic; 3Heller Institute of Medical Science, Sheba Medical Center, Ramat Gan, Israel
P2020 Treatment of type 1 interferonopathy with Ciclosporin A and baricitinib in a 5 year old boy with heterozygous PSMB-8 mutation
Christoph Rietschel1, Eduardo Salamano1, Min Ae Lee-Kirsch2, Kay Latta3
1Pediatric Rheumatology, Clementine Kinderhospital, Frankfurt/Main; 2Molecular Pediatrics, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden; 3General Pediatrics, Clementine Kinderhospital, Frankfurt/Main, Germany
P2021 Protein prenylation is defective in mevalonate kinase deficiency and is an accurate biomarker in peripheral blood mononuclear cells
Michael Rogers1, Julie Jurczyluk1, Oliver Skinner1, Anna Simon2, Sam Mehr3, Pravin Hissaria4, Rob Arts5, David Coman6, Marcia Munoz1
1Bone Biology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, Australia; 2Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands; 3Department of Allergy/Immunology, Royal Children's Hospital, Melbourne; 4Department of Clinical Immunology, Royal Adelaide Hospital, Adelaide, Australia; 5Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands; 6Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia
P2022 Encephalopathy in early-onset sarcoidosis: is it neurosarcoidosis or autoimmune encephalitis?
Nihal Sahin1, Sumeyra O. Cicek1, Aysenur P. Kisaarslan1, Zubeyde Gündüz2, Muammer H. Poyrazoglu1, Ruhan Düşünsel1
1Pediatric Rheumatology, Erciyes University Faculty of Medicine; 2Pediatric Rheumatology, Acibadem Hospital, Kayseri, Turkey
P2023 Risk factors of colchicine resistance in pediatric patients with familial Mediterranean fever: a single center experience
Nihal Sahin1, Aysenur P. Kisaarslan1, Sumeyra O. Cicek1, Zubeyde Gunduz2, Muammer H. Poyrazoglu1, Ruhan Düşünsel1
1Pediatric Rheumatology, Erciyes University Faculty of Medicine; 2Pediatric Rheumatology, Acibadem Hospital, Kayseri, Turkey
P2024 Distinctive features of familial Mediterranean fever with juvenile spondyloarthritis patients from familial Mediterranean fever and juvenile spondyloarthritis patients
Ayşenur Paç Kısaarslan1, Nihal Şahin1, Sümeyra Özdemir Çiçek1, Zübeyde Gündüz2, Muammer H. Poyrazoğlu1, Ruhan Düşünsel1
1Pediatric Rheumatology, Erciyes University Faculty of Medicine; 2Pediatric Rheumatology, Acıbadem Hastanesi, Kayseri, Turkey
P2025 Type 1 interferonopathy presenting with fever, fatigue, chronic urticaria, arthritis, elevated liver enzymes and hyperferritinemia in a 13-year-old girl – an important differential diagnosis to systemic juvenile idiopathic arthritis
Eduardo Salamano1, Min Ae Lee-Kirsch2, Christoph Rietschel1
1Rheumatology, Clementine Children Hospital, Frankfurt; 2Immunology, Universitätsklinikum Carl Gustav Carus, Dresden, Germany
P2026 Cryopyrin-associated periodic syndromes in adults: diagnosis, therapy in clinical practice
Svetlana Salugina, Evgeny Fedorov, Tatjana Dubinina, Svetlana Palshina
Nassonova Research Institute of Rheumatology, Moscow, Russian Federation
P2027 Pulmonary screening of FMF patients during periodic follow-up: clinical and pathogenetic considerations
Anna Sargsyan
Internal Medicine, YSMU, Yerevan, Armenia
CRP | ||
---|---|---|
FMF-amyloidosis, n=75 | FMF, n=80 | |
FEV1 | -0.063 | -0.100 |
FVC | 0.139 | 0.168 |
FEV1/FVC | -0,408** | -0.076 |
PO2 | -0,301* | -0,329* |
PCO2 | -0,022 | -0.037 |
SpO2 | -0,317* | -0.131 |
P2028 Identification of novel loss-of-function mutations in two independent patients with deficiency of adenosine deaminase 2
Oskar Schnappauf, Natalia Sampaio Moura, Qing Zhou, Natalie Deuitch, Daniel Kastner, Ivona Aksentijevich
National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, United States
P2029 Humoral immune compromise with autoinflammatory disease due to mutation in NLRP12
Analia G. Seminario, María S. Caldirola, Ileana Moreira, Lorena Regairaz, Liliana Bezrodnik
Immunology, Centro de Inmunología Clínica Dra Bezrodnik, Buenos Aires, Argentina
P2030 Genetic screening in patients with undifferentiated periodic fever syndrome
Ferhat Demir1, Ozlem Akgun Dogan2, Yasemin Kendir Demirkol2, Kubra Ermis Tekkus3, Sezin Canbek3, Nuray Aktay Ayaz4, Levent Doganay3, Betul Sozeri1
1Pediatric Rheumatology; 2Pediatric Genetic; 3Genomic Laboratory (GLAB), Health Directorate of Istanbul, University of Health Sciences, Istanbul, Umraniye Training and Research Hospital; 4Pediatric Rheumatology, University of Health Sciences, Istanbul, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey
P2031 Deficiency of ADA2 from childhood to adult; the same mutation in a family
Betul Sozeri1, Gozde Ercan2, Ozlem Akgun Dogan3, Jale Yıldız4, Ferhat Demir1, Levent Doğanay4
1Pediatric Rheumatology; 2Pediatrics; 3Pediatric Genetics; 4Genomic Laboratory (GLAB), Health Directorate of Istanbul, University of Health Sciences, Istanbul, Umraniye Training and Research Hospital, Istanbul, Turkey
P2032 Autoinflammatory diseases in Ukraine
Yuriy Stepanovskyy1, Yaryna Boyko2
1Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy of Postgraduate Education, Kyiv; 2Rheumatology, Western Ukrainian Specialized Pediatric Medical Centre, Lviv, Ukraine
Patient | Sex | Disease type | Genetic test |
---|---|---|---|
1, 2 | F | FMF | confirmed & not done |
3 | M | HIDS | confirmed |
4, 5, 6 | F, F, M | CINCA/NOMID | confirmed |
7 | F | DADA2 | confirmed |
8 | F | Cold-induced AID | not done |
9 | F | TRAPS-like phenotype | not done |
10 | F | AID, undefined | new mutation was found, under investigation at NIH |
11 | F | AID, undefined | WGS, mutations not found |
12 | F | NRLC4-MAS like illness | Panel sequencing for 15 genes including NLRC4-negative result |
P2033 The spectrum of autoinflammatory syndromes at postgraduate institute of medical education and research, Chandigarh, India
Deepti Suri1, Amit Rawat1, Anju Gupta1, P. Vignesh1, Ankur Jindal1, Sagar Bhattad1, Marco Gattorno2, Adriana A de Jesus3, Raphaela Goldbach-Mansky3, Surjit Singh1
1Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Insitute of Medical Education and Research, Chandigarh, India; 2Center for Autoinflammatory Diseases and Immunodeficiencies, G. Gaslini Institute for Children, Genoa, Italy; 3Translational Autoinflammatory Disease Section, NIAID, NIH, Bethesda, Maryland, United States
Patient Profile | Diagnosis | Prominent clinical features | Age at Diagnosis (years) | Treatment | Outcome |
---|---|---|---|---|---|
NOMID S,13 years F |
NLRP3 C.913G>C, p.D305H
(de novo mutation) | Fever, rash in infancy, bony overgrowth, headache Amyloidosis, misdiagnosed as JIA, | 13 years | Thalidomide | Doing well Symptomatically better |
NOMID K,11years M | NLRP3 p.Thr349Ile Parents negative (de novo mutation). Mosaicism | Crippling arthritis, Bed bound, amyloidosis | 11 years | Prednisolone | Died due to refractory renal failure secondary to amyloidosis |
K,8 years F |
CAPS
NLRP3 mutation | Diagnosed as steroid resistant nephrotic syndrome | 8 years | Prednisolone | Died |
TRAPS (n=2) M,4 years, F | TNFRSF1A p. Cys43Tyr Transmitted from father | Periodic fevers, subcutaneous swellings, rash, periorbital edema Father symptomatic | 4 years | Etanercept | Doing well on etanercept |
KD,35 years, F | TNFRSF1A p.Pro301His (Unreported VUS) | Fever, conjunctivitis, Pustular psoriasis with high Inflammatory markers | 6 years | Prenisolone cyclosporine | Partial control Intermittent flares of skin and fever |
DIRA (n=1) B/O V, 2months, F1 | IL1RN deletion, at chr2_hg19_113,865,011 and chr2_hg19_113,887,227 homozygous 22,216bp deletion spans the first four exons of IL1RN Parents carrier for same mutation (NM_173843) | Infant with multifocal osteitis, few pustules, | - | Anakinra* | Doing well |
S, 1.5 months, M | Result awaited | Multifocal osteitis involving humerus, clavicle, ribs | 1.5months | Prednisolone for 6 months | Doing well |
PAPA (n=1) M, 8 years F |
PSTPIP1 gene
p.Thr 68Met | Pyoderma, abscess, colitis, fever | 4 years | Prednisolone, Infliximab | Died |
APLAID (n=1) M, 3 years, F | PLCG2 exon 22 c.2393A>G p.Asn798Ser Heterozygous | Joint swelling, rash and bloody diarrhoea | 6 years | Prednisolone | Doing well Intermittent skin flares |
P2034 Patient with FMF presented by isolated myositis
Sema N. Taskin, Aysenur Kisaarslan, Sümeyra Ozdemir Çiçek, Nihal Sahin, Muammer Hakan Poyrazoğlu, Ruhan Dusunsel
Pediatric Rheumatology, Erciyes University Medical Faculty, Kayseri, Turkey
P2035 Interstitial lung disease in a newborn affected by mevalonic aciduria
Sofia Torreggiani1,2, Carlo Pietrasanta3,4, Francesca Minoia1, Giovanni Filocamo1, Andrea Ronchi3, Stefano Volpi5, Roberta Caorsi5, Marco Gattorno5, Francesco Caroli6, Alice Grossi6, Isabella Ceccherini6, Lorenza Pugni3, Fabio Mosca3,4
1Pediatria Media Intensità di Cura, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan; 2University of Milan; 3NICU Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan; 4University of Milan, Department of Clinical Sciences and Community Health, Milan; 5Clinica Pediatrica e Reumatologia; 6UOC Genetica Medica, Istituto Giannina Gaslini, Genova, Italy
P2036 Familial Mediterranean fever related damage assessed by auto-inflammatory disease damage index (ADDI) and associated factors with damage
Hakan Babaoglu1, Berkan Armagan2, Erdal Bodakci3, Timucin Kasifoglu3, Hasan Satis1, Nuh Atas1, Alper Sari2, Gozde K. Yardimci2, Nazife S. Y. Bilge3, Reyhan B. Salman1, Levent Kilic2, Mehmet A. Ozturk1, Seminur Haznedaroglu1, Berna Goker1, Umut Kalyoncu2, Abdurrahman Tufan1
1Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine; 2Department of Internal Medicine, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara; 3Department of Internal Medicine, Division of Rheumatology, Eskisehir Osmangazi University Faculty of Medicine, Eskişehir, Turkey
P2037 Familial Mediterranean fever associated inflammatory disorders
Nuh Ataş1, Berkan Armagan2, Erdal Bodakci3, Timucin Kasifoglu3, Hasan Satis1, Alper Sari2, Nazife S. Y. Bilge3, Hakan Babaoglu1, Gözde K. Yardımcı2, Reyhan B. Salman1, Levent Kilic2, Mehmet A. Ozturk1, Seminur Haznedaroglu1, Berna Goker1, Umut Kalyoncu2, Abdurrahman Tufan1
1Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine; 2Department of Internal Medicine, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara; 3Department of Internal Medicine, Division of Rheumatology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey
P2038 Work productivity and activity impairment in familial Mediterranean fever patients
Erdem Suticen1, Nuh Atas2, Hakan Babaoglu2, Hasan Satis2, Reyhan B. Salman2, Ozkan Varan2, Mehmet A. Ozturk2, Seminur Haznedaroglu2, Berna Goker2, Abdurrahman Tufan2
1Department of Internal Medicine; 2Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine, Ankara, Turkey
P2039 Human phenotype ontology for systemic autoinflammatory disorders
Marielle Van Gijn1, Julia Pazmandi2,3, Paul Brogan4, Marco Gattorno5, Paul van Daele6, Kaan Boztug2,3, Peter Robinson7, Matthias Haimel2,3, Anna Simon8
1Genetics, University Medical Center Utrecht, Utrecht, Netherlands; 2Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases; 3CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; 4Infection Inflammation and Rheumatology Section, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; 5Department of Pediatric Rheumatology, IRCCS G. Gaslini Institute, Genoa, Italy; 6Deparment of Internal medicine and department of Immunology, Erasmus MC, Rotterdam, Netherlands; 7The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States; 8Department of Internal Medicine, Radboudumc Expertise Ccenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, Netherlands
P2040 Diagnosis and stratification of familial Mediterranean fever by a simple functional assay
Hanne Van Gorp1, Linyang Huang1, Pedro Saavedra1, Tomoko Asaoka1, Andy Wullaert1, Benson Ogunjimi2, Vito Sabato2, Joost Frenkel3, Fabrizio De Benedetti4, Joke Dehoorne1, Filomeen Haerynck1, Giuseppe Calamita5, Piero Portincasa5, Mohamed Lamkanfi1
1Ghent University, Ghent; 2University of Antwerp, Antwerp, Belgium; 3University Medical Center Utrecht, Utrecht, Netherlands; 4Bambino Gesù Children’s Hospital, Rome; 5University of Bari, Bari, Italy
P2041 Evaluation of coexisting diseases in children with familial Mediterranean fever
Mehmet Yildiz, Amra Adrovic, Emre Tasdemir, Khanim Baba-Zada, Muhammed Aydin, Oya Koker, Sezgin Sahin, Kenan Barut, Ozgur Kasapcopur
Pediatric Rheumatology, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey
n(%) | |
---|---|
Juvenile Idiopathic Arthritis | 40(5,8) |
-·Systemic | 4 (0,5) |
- Oligoarticular | 17(2,4) |
- Polyarticular | 5(0,7) |
- Enthesitis Related Arthritis | 1(0,1) |
- Juvenile Spondylitis | 13(1,8) |
Asthma/ Reactive Airway Disease | 26(3,7) |
Henoch Schonlein Purpura | 18(2,6) |
Uveitis | 10(1,4) |
Inflammatory bowel disease | 9(1,3) |
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) | 7(1) |
Acute Rheumatic Fever | 7(1) |
Migraine | 7(1) |
Allergic Rhinitis | 6(0,8) |
P2042 Results of international Delphi survey on the investigation and management of first-degree relatives of those with deficiency of ADA2
Taryn A.-B. Youngstein1, Eugene P. Chambers2, on behalf of DADA2 Foundation, Helen J. Lachmann1, and DADA2 Delphi Study Participants
1National Amyloidosis Centre, National Amyloidosis Centre, UCL Division of Medicine, London, London, United Kingdom; 2Vanderbilt University Medical Centre, Vanderbilt University, Nashville, United States
Non-monogenic SAIDs (clinical)
P2043 We need more tests for discrimination non-bacterial osteomyelitis form tuberculosis in early stages
Mikhail Kostik1, Olga Kopchak2, Alexey Maletin3, Vyacheslav Zorin3, Alexander Mushkin3
1Saint-Petersburg State Pediatric Medical University, Saint-Petersburg; 2Kirov’s Regional Children’s Hospital, Kirov; 3Science Research Institute of Phthisiopulmonology, Saint-Petersburg, Russian Federation
The set of criteria | The maximal possible number of patients with TBO, who may be false-diagnosed as NBO, n (%) | RR (95%CI) | Se | Sp |
---|---|---|---|---|
Jansson, 2009 | 29/33 (87.9) | 0.14 (0.06-0.35) | 0.12 | 0.12 |
Jansson 2011 | 7/33 (21.2) | 3.7 (1.9-7.3) | 0.79 | 0.79 |
Roderick, 2016 | 5/33 (15.2) | 5.6 (2.5-12.7) | 0.85 | 0.85 |
Our criteria | For NBO | |||
Major criteria | 0 (100.0) | na | 1.0 | 1.0 |
≥2 minor criteria | 32/91 (35.2) | 1.84 (1.3-2.5) | 0.65 | 0.65 |
≥3 minor criteria | 11/91 (12.1) | 7.3 (4.2-12.7) | 0.88 | 0.88 |
≥4 minor criteria | 0/91 (0.0) | na | 1.0 | 1.0 |
P2044 The features and distribution of chronic non-bacterial osteomyelitis in Russian Federation
Mikhail Kostik1, Maria Makhova1, Vyacheslav Zorin2, Evgeny Suspitsin1,3, Eugenia Isupova1, Shamai Magomedova4,5, Inna Kostik6, Alexander Mushkin2
1Saint-Petersburg State Pediatric Medical University; 2Science research Institute of Phthisiopulmonology; 3N.N. Petrov Institute of Oncology, Saint-Petersburg; 4Republican Children's Clinical Hospital; 5Dagestan State Medical Academy, Makhachkala; 6Children's Rehabilitation Center “Detskye Duny”, Saint-Petersburg, Russian Federation
Parameter | EO-CNO (n=17) | “CNO w/o RD” (n=59) | CNO with RD (n=20) | p1 |
---|---|---|---|---|
Onset age, years | 3.0 (2.1-4.8) | 7.3 (2.8-11.7) | 10.3 (8.2-12.2) |
0.0009
|
Gender, females | 8 (47.1) | 27 (45.8) | 14 (70.0) | 0.17 |
Fever at onset | 9/16 (56.3) | 23 (39.0) | 5 (25.0) | 0.16 |
Foci number | 5.0 (1.5-6.0) | 3.0 (1.0-4.0) | 2.0 (1.0-6.0) |
0.048
|
Symptomatic arthritis | 15/16 (93.8) | 33 (55.9) | 17 (85.0) |
0.003
|
North Caucasus origin | 17 (100.0) | 0 (0.0) | 0 (0.0) |
<0.00001
|
Granulematosus inflammation (tuberculosis-like) | 17 (100.0) | 0 (0.0) | 0 (0.0) |
<0.00001
|
Prevalence of CNO | 1: 55,000 | 1:450,000 | 1:1,375,000 |
<0.00001
|
P2045 Kawasaki disease shock syndrome: clinical characteristics and possible use of IL-6, IL-10 and IFN-gamma as biomarkers for early recognition
Meiping Lu1, Yandie Li2, Qi Zheng2
1Zhejiang University; 2Children’s Hospital of Zhejiang University, Hangzhou, China
P2046 Outcomes following tonsillectomy in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome
Kalpana Manthiram1, Sivia Lapidus2, Karyl Barron3, Amanda Ombrello1, Daniel Kastner1, Kathryn Edwards4
1National Human Genome Research Institute, NIH, Bethesda; 2Hackensack University Medical Center, Hackensack; 3National Institute of Allergy and Infectious Diseases, NIH, Bethesda; 4Vanderbilt University School of Medicine, Nashville, United States
Characteristic | % without feature who had complete resolution after tonsillectomy | % with feature with complete resolution after tonsillectomy | P value |
---|---|---|---|
Aphthous ulcer | 53.3% | 46.9% | 0.67 |
Pharyngitis | 40.0% | 49.2% | 1.00 |
Lymphadenopathy | 63.6% | 45.3% | 0.27 |
Headache | 45.5% | 51.6% | 0.62 |
Abdominal pain |
60.6%
|
35.5%
|
0.04
|
Vomiting | 51.3% | 44.0% | 0.57 |
Limb pain (arthralgia or myalgia) |
70.6%
|
23.3%
|
<0.001
|
Episode shortens with steroid |
12.5%
|
53.5%
|
0.03
|
P2047 Relationship between MEFV gene and clinical findings of chronic recurrent multifocal osteomyelitis
Sümeyra Özdemir Çiçek1, Nihal Şahin1, Zehra F. Karaman2, Sema N. Taşkın1, Ayşenur Paç Kısaarslan1, Zübeyde Gündüz3, Muammer H. Poyrazoğlu1, Ruhan Düşünsel1
1Pediatric Rheumatology; 2Pediatric Radiology, Erciyes University Medical Faculty; 3Pediatric Rheumatology, Acıbadem Hastanesi, Kayseri, Turkey
P2048 Behçet’s disease with pseudotumor cerebri and cerebral venous sinus thrombosis: a case report
Sümeyra Özdemir Çiçek1, Nihal Şahin1, Sema N. Taşkın1, Ayşenur Paç Kısaarslan1, Zübeyde Gündüz2, Muammer H. Poyrazoğlu1, Ruhan Düşünsel1
1Pediatric Rheumatology, Erciyes University Medical Faculty; 2Pediatric Rheumatology, Acıbadem Hastanesi, Kayseri, Turkey
P2049 The use of next generation sequencing panel in undifferentiated autoinflammatory diseases identify a separate subset of colchicine-responder recurrent fevers distinct from PFAPA syndrome
Riccardo Papa1, Marta Rusmini2, Stefano Volpi1, Roberta Caorsi1, Paolo Picco1, Alice Grossi2, Francesco Caroli2, Francesca Bovis3, Valeria Musso1, Laura Obici4, Cinza Castana5, Angelo Ravelli1, Marielle E. Van Gijn6, Isabella Ceccherini2, Marco Gattorno1
1Pediatric Rheumatology Clinic; 2Medical Genetics Unit, IRCCS Giannina Gaslini Institute; 3Department of Health Sciences (DISSAL), University of Genoa, Genova; 4Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, IRCCS Fondazione Policlinico San Matteo, Pavia; 5Pediatric Clinic, ARNAS Civico Di Cristina Benfratelli, Palermo, Italy; 6Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Clinical features | Our cohort (34 patients) | Thomas et al. (82 patients) | Hofer et al. (301 patients) | Batu et al. (131 patients) | Pehlivan et al. (359 patients) | P value |
---|---|---|---|---|---|---|
Mean duration of episodes (days; ±SD) | 5.9 ± 1.4 | NR | NR | NR | 4.0 ± 3.1 | <.0001 |
Median interval between episodes (weeks; ±SD) | 3.0 ± 0.3 | NR | NR | NR | 3.3 ± 1.5 | NS |
Abdominal pain | 17 (50) | 40 (49) | 136 (45) | 60 (46) | 102 (29) | NS |
Arthritis | 7 (21) | NR | 8 (3) | NR | 7 (0) | <.0001 |
Skin rash | 11 (32) | 7 (9) | 38 (13) | 7 (5) | NR | <.0001 |
Pharyngotonsillitis | 13 (38) | 59 (72) | 271 (90) | 126 (96) | 359 (100) | <.0001 |
Cervical lymphadenopathy | 6 (18) | 72 (88) | 236 (78) | 70 (53) | 215 (60) | <.0001 |
Oral aphthosis | 13 (38) | 57 (70) | 171 (57) | 56 (43) | 317 (88) | <.0001 |
Response to colchicine | 14/18 (78) | 0/1 (0) | NR | 5/11 (45) | 24/45 (53) | NS |
P2050 Epidemiology and clinical features of PFAPA in Western Sweden
Karin Rydenman1,2, Hanna Fjeld3, Anna Karlsson4, Stefan Berg1,5, Anders Fasth1,5, Per Wekell1,2
1Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg; 2NU Hospital Group, Uddevalla; 3Örebro University, Örebro; 4Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg; 5Queen Silvia Children's Hospital, Gothenburg, Sweden
Symptom | Always | Sometimes | Never | Data missing | Total |
---|---|---|---|---|---|
Pharyngitis | 151 (64) | 64 (27) | 2 (0.8) | 19 (8) | 236 |
Aphthous stomatitis | 22 (9) | 83 (35) | 57 (24) | 74 (31) | 236 |
Cervical adenitis | 114 (48) | 62 (26) | 8 (3) | 52 (22) | 236 |
P2051 Observations in a patient with PFAPA-like disease associated with erysipelas-like erythema and R202Q variant in MEFV
Per Wekell1,2, Mia Olsson3, Peter Söderkvist4, Anna Karlsson5, Stefan Berg2, Anders Fasth2
1Department Pediatrics, NU-Hospital Group, Uddevalla; 2Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg; 3Department of Medicine, Center for Molecular Medicine, Karolinska Institute, Stockholm; 4Department of Clinical and Experimental Medicine, Linköping University, Linköping; 5Department of Rheumatology and Inflammation Research, Institute of Medicine, Gothenburg, Sweden
P2052 YAO syndrome versus familial Mediterranean fever
Qingping Yao1, Peter Gorevic2
1Medicine, Stony Brook University, Stony Brook; 2Medicine, Mount Sinai Hospital, NY, United States
P2053 May some of the MEFV gene variants cause PFAPA syndrome like symptoms?
Amra Adrovic, Mehmet Yildiz, Ipek Ulkersoy, Neslihan Gucuyener, Oya Koker, Sezgin Sahin, Kenan Barut, Ozgur Kasapcopur
Pediatric Rheumatology, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey
Exon 2 | Exon 3 | Exon 10 | No Mutation | MEFV study not performed | p | |
---|---|---|---|---|---|---|
Pharyngitis | ||||||
Yes | 21(87,5) | 9(40,9) | 45(80,4) | 28 (87,5) | 168(87,5) |
<0,05
|
No | 3(12,5) | 13(59,1) | 11(19,6) | 4(12,5) | 24(12,5) | |
Aphthous stomatitis/Cryptic tonsillitis | ||||||
Yes | 15(62,5) | 8(36,4) | 21(37,5) | 17 (53,1) | 102(53,1) | 0,11 |
No | 9(37,5) | 14(63,6) | 35(62,5) | 15(46,9) | 90(46,9) | |
Cervical lymphadenopathy | ||||||
Yes | 10(41,7) | 8(36,4) | 21(37,5) | 14(56,3) | 77(40,1) | 0,97 |
No | 14(58,3) | 14(63,6) | 35(62,5) | 18(43,7) | 115(59,9) | |
Arthralgia | ||||||
Yes | 5(20,8) | 11(50) | 22(39,3) | 19(59,4) | 66(34,5) |
0,02
|
No | 19(79,2) | 11(50) | 34(60,7) | 13(40,6) | 126(65,5) | |
Arthritis | ||||||
Yes | 1(4,2) | 3(13,6) | 1(1,8) | 2(6,3) | 11(5,7) | 0,35 |
No | 23(95,8) | 19(86,4) | 55(98,2) | 30(93,7) | 181(94,3) | |
Abdominal Pain | ||||||
Yes | 17(70,8) | 12(54,5) | 27(48,2) | 16(50) | 56(70,8) |
<0,05
|
No | 7(29,2) | 10(45,5) | 29(51,8) | 16(50) | 136(29,2) | |
Myalgia | ||||||
Yes | 0(0) | 8(36,4) | 9(16,1) | 7(21,9) | 24(12,5) |
0,006
|
No | 24(100) | 14(63,6) | 47(83,9) | 25(78,1) | 168(87,5) | |
Tonsillectomy | ||||||
Yes | 14(58,3) | 5(22,7) | 21(38,9) | 20(62,5) | 109(57,1) |
0,005
|
No | 10(41,7) | 17(77,3) | 33(66,1) | 12(37,5) | 82(42,9) | |
Steroid Response | ||||||
Yes | 17(94,4) | 8(88,9) | 35(89,7) | 20(90,9) | 139(89,7) | 0,97 |
No | 1(5,6) | 1(11,1) | 4(10,3) | 2(9,1) | 16(10,3) |
Non-monogenic SAIDs (basic science)
P2054 Next generation sequencing analysis of familial haemophagocytic lymphohistiocytosis related genes in macrophage activation syndrome and secondary HLH
Chiara Passarelli1, Manuela Pardeo2, Ivan Caiello2, Elisa Pisaneschi1, Antonella Insalaco2, Francesca Minoia3, Andrea Taddio4, Francesco Licciardi5, Antonio Novelli1, Fabrizio De Benedetti2, Claudia Bracaglia2
1Unit of Laboratory of Medical Genetics; 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome; 3Reumatologia Pediatrica, IRCCS Istituto Giannina Gaslini, Genoa; 4Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, Trieste; 5SCDU Pediatria II, Immunoreumatologia, Ospedale Pediatrico Regina Margherita, Turin, Italy
P2055 Evaluation of the new classification criteria for PFAPA syndrome
Fabio Crimi1, Véronique Hentgen2, Glory Dingulu2, Isabelle Koné-Paut3, Sophie Georgin-Lavialle4, Pascal Pillet5, Michaël Hofer1
1CHUV, Lausanne, Switzerland; 2CH de Versailles, Le Chesnay; 3CHU de Bicêtre, Le Kremlin Bicêtre; 4Hôpital Tenon, Paris; 5CHU de Bordeaux, Bordeaux, France
P2056 Human (pro)caspase-1 variants influence cell death and mechanical properties of human monocytes/macrophages
Felix Schulze1, Franz Kapplusch2, Sabrina Rabe-Matschewsky1, Susanne Russ1, Maik Herbig3, Ursula Range4, Angela Rösen-Wolff1, Stefan Winkler1, Christian M. Hedrich2,5, Jochen Guck3, Sigrun R. Hofmann1
1Pediatrics, Universitätsklinikum C.G. Carus, TU Dresden, Dresden, Germany; 2Department of Women's & Children's Health, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom; 3Biotechnology Center for Molecular and Cellular Bioengineering, TU Dresden; 4Institute for Medical Informatics and Biometry, Medizinische Fakultät C.G. Carus, TU Dresden, Dresden, Germany; 5Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust Hospital, Liverpool, United Kingdom
P2057 Patient with NOD2, NLRP1 and C9 variants with recurrent fever attacks, infectious susceptibility and osteomyelitic lesions indicative of NAID?
Christian Høst1, Mette Christiansen2, Sofie E. Jørgensen3, Troels Herlin1, Mia Glerup1, Birgitte Mahler1, Trine Mogensen4
1Pediatrics; 2Clinical Immunology, Aarhus University Hospital, Aarhus N; 3Biomedicine, Aarhus University, Aarhus C; 4Infectious diseases, Aarhus University Hospital, Aarhus N, Denmark
P2058 The cytokines profiles in chronic non-bacterial osteomyeilitis non-systemic juvenile idiopathic arthritis and healthy controls
Mikhail Kostik1, Daria Kozlova2,3, Dmitry Vasiliev2,3, Olga Karlina2,4, Maria Makhova1, Lubov Sorokina1, Vyacheslav Zorin5, Eugenia Isupova1, Shamai Magomedova6,7, Inna Kostik8, Alexander Mushkin5
1Saint-Petersburg State Pediatric Medical University; 2LLC “Scientific and Production Company “Abris+”; 3Sechenov Institute of Evolutionary Physiology and Biochemistry RAS; 4Saint-Petersburg State Institute of Technology; 5Science research Institute of Phthisiopulmonology, Saint-Petersburg; 6Republican Children’s Clinical Hospital; 7Dagestan State Medical Academy, Makhachkala; 8Children's Rehabilitation Center “Detskye Duny”, Saint-Petersburg, Russian Federation
Parameter | CNO (n=35) | JIA (n=18) | HC (n=5) | р | р1 | р2 | р3 |
---|---|---|---|---|---|---|---|
ESR, mm/h | 25.0 (8.0-43.0) | 9.0 (3.0-14.0) | 5.0 (2.0-5.0) | 0.007 | 0.018 | 0.008 | 0.174 |
CRP, mg/l | 10.1 (6.0-40.6) | 1.75 (0.7-5.6) | 0.5 (0.2-0.5) | 0.0001 | 0.007 | 0.0001 | 0.024 |
14-3-3 protein, ng/ml | 19.9 (18.3-27.1) | 51.9 (39.7-60.0) | 2.4 (1.5-5.1) | 0.00001 | 0.0000001 | 0.000003 | 0.00006 |
Calprotectin, ng/ml | 5.9 (5.2-6.7) | 3.95 (3.1-14.3) | 0.75 (0.68-0.84) | 0.004 | 0.122 | 0.000003 | 0.00006 |
Interleukin-6, ng/ml | 45.5 (40.0-51.0) | 445.1 (69.3-530.5) | 4.0 (3.2-4.9) | 0.00001 | 0.0000001 | 0.000003 | 0.00006 |
P2059 Genetic analysis of the patients with early-onset chronic non-bacterial osteomyelitis from north Caucasian regions of Russia
Mikhail Kostik1, Maria Makhova1, Evgeny Suspitsin1,2, Anna Sokolenko1,2, Vyacheslav Zorin3, Eugenia Isupova1, Shamai Magomedova4,5, Inna Kostik6, Hiroshi Takayanagi7, Alexander Mushkin3, Evgeny Imyanitov1,2
1Saint-Petersburg State Pediatric Medical University; 2N.N. Petrov Institute of Oncology; 3Science research Institute of Phthisiopulmonology, Saint-Petersburg; 4Republican Children's Clinical Hospital; 5Dagestan State Medical Academy, Makhachkala; 6Children’s Rehabilitation Center “Detskye Duny”, Saint-Petersburg, Russian Federation; 7Tokyo University, Tokyo, Japan
P2060 Proteomic profile of peripheral blood mononuclear cells in Behçet’s disease
Asli Kirectepe Aydin1, Yesim Ozguler2, Didar Ucar3, Emire Seyahi2, Hasan Yazici2, Eda Tahir Turanli1,4
1Molecular Biology-Genetics & Biotechnology Department, Dr Orhan Öcalgiray Molecular Biology-Biotechnology & Genetics Research Centre, Graduate School of Science, Engineering & Technology, Istanbul Technical University; 2Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical School; 3Division of Ophthalmology, Department of Surgical Medicine, Cerrahpasa Medical School, Istanbul University – Cerrahpasa; 4Department of Molecular Biology & Genetics, Faculty of Science Literature, Istanbul Technical University, Istanbul, Turkey
P2061 IL1RAP as a candidate gene for autosomal dominant Behçet’s disease
Gamze Turan1, Ilker Karacan1, Serdal Ugurlu2, Selcuk Dasdemir3, Huri Ozdogan2, Aslihan Tolun4, Eda Tahir Turanli1
1Department of Molecular Biology and Genetics, Istanbul Technical University; 2Department of Rheumatology, Istanbul University Cerrahpasa; 3Department of Medical Genetics, Istanbul University; 4Department of Molecular Biology and Genetics, Bogazici University , Istanbul, Turkey
Systemic-onset JIA and AOSD
P2062 Canakinumab in systemic juvenile idiopathic arthritis: clinical inactive disease rate and safety initalian patients
Manuela Pardeo1, Claudia Bracaglia1, Anna Lucia Piscitelli1, Arianna De Matteis2, Jessica Tibaldi3, Maria Alessio2, Achille Marino4, Giovanni Conti5, Maria Cristina Maggio6, Clotilde Alizzi6, Francesco Licciardi7, Alma Nunzia Olivieri8, Giovanni Filocamo9, Francesca Orlando2, Silvana Martino7, Rolando Cimaz4, Angelo Ravelli3, Fabrizio De Benedetti1
1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome; 2Department of Pediatrics, Rheumatology Unit, University Federico II, Naples; 3Department of Paediatric Rheumatology, University of Genova and Giannina Gaslini Institut, Genoa; 4Department of Neurosciences, Psychology, Drug Research and Child Health, Rheumatology Unit, Meyer Children's Hospital, University of Florence, Florence; 5Unit of Pediatric Nephrology and Rheumatology, University of Messina, Messina; 6University Department Pro.Sa.M.I. “G. D'Alessandro”, University of Palermo, Palermo; 7Department of Pediatrics and Infectious Diseases, University of Turin, Turin; 8Department of Woman, Child, and General and Specialistic Surgery, Second University of Studies of Naples, Naples; 9Intermediate Pediatric Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
P2063 Whole blood phosphorylated STAT1 levels in patients with active macrophage activation syndrome and secondary hemophagocytic lymphohistiocytosis
Antonia Pascarella, Claudia Bracaglia, Emiliano Marasco, Ivan Caiello, Gian Marco Moneta, Luciapia Farina, Giulia Marucci, Alessia Arduini, Manuela Pardeo, Fabrizio De Benedetti, Giusi Prencipe
Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy
P2064 Whole blood cells from patients with systemic juvenile idiopathic arthritis (SJIA) in clinical inactive disease displayed a dysregulated response to TLR-4 stimulation
Antonia Pascarella, Manuela Pardeo, Ivan Caiello, Claudia Bracaglia, Marianna N. Rossi, Giulia Marucci, Emanuela Sacco, Fabrizio De Benedetti, Giusi Prencipe
Bambino Gesù Children’s Hospital, Rome, Italy
P2065 Anakinra drug retention rate and predictive factors of drug survival in systemic juvenile idiopathic arthritis and adult onset Still’s disease
Jurgen Sota1, Donato Rigante2, Antonella Insalaco3, Paolo Sfriso4, Salvatore de Vita5, Rolando Cimaz6, Giuseppe Lopalco7, Giacomo Emmi8, Francesco La Torre9, Claudia Fabiani10, Alma N. Olivieri11, Marco Cattalini12, Daniele Cammelli13, Romina Gallizzi14, Maria Alessio15, Raffaele Manna16, Ombretta Viapiana17, Micol Frassi18, Armin Maier19, Carlo Salvarani20, Rosaria Talarico21, Roberta Priori22, Maria C. Maggio23, Manuela Pardeo3, Carla Gaggiano24, Salvatore Grosso24, Fabrizio de Benedetti25, Antonio Vitale26, Luca Cantarini26
1Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences,, University of Siena, Siena; 2Institute of Pediatrics , Fondazione Policlinico A. Gemelli IRCCS; 3Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital IRCCS, Rome; 4Rheumatology Unit, Department of Medicine, University of Padua, Padua; 5Department of Medical and Biological Sciences, Rheumatology Clinic, Univeristy of Udine, Udine; 6Rheumatology Unit, Meyer Children's Hospital, University of Florence, Florence; 7Department of Emergency and Organ Transplantation-Rheumatology Unit, University of Bari, Bari; 8Department of Experimental and Clinical Medicine, University of Florence, Florence; 9Pediatric Rheumatology Section, Pediatric Oncoematology Unit, Vito Fazzi Hospital, Lecce; 10Ophthalmology Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Siena; 11Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi of Naples, Naples; 12Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia; 13Experimental and Clinical Medicine Department, University of Florence, Florence; 14Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; 15Department of Pediatrics, University Federico II, Naples; 16Periodic Fever Research Center, Università Cattolica Sacro Cuore, Rome; 17Rheumatology Section, Department of Medicine, University of Verona, Verona; 18Rheumatology and Clinical Immunology Unit, Department of Clinical and Experimental Sciences, University of Brescia and Spedali Civili di Brescia, Brescia; 19Struttura Semplice di Reumatologia, Ospedale di Bolzano, Bolzano; 20Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera ASMN IRCCS,, Reggio Emilia; 21Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa; 22Department of Internal Medicine and Medical Specialties, Rheumatology Unit, Sapienza University of Rome, Rome; 23Universitary Department “Pro.S.A.M.I.”, University of Palermo, Palermo; 24Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Siena; 25Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; 26Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences,University of Siena, Siena, Italy
P2066 Predictors of effectiveness of anakinra in systemic juvenile idiopathic arthritis
Jessica Tibaldi1, Bendetta Saccomanno1, Francesca Minoia2, Francesca Bagnasco3, Angela Pistorio3, Andreessa Guariento4, Roberta Caorsi3, Alesandro Consolaro1, Marco Gattorno3, Angelo Ravelli1
1Istituto G. Gaslini/Università degli Studi di Genova, Genoa; 2Fondazione IRCCS Ca’ Granda, Ospedale, Milan; 3Istituto G. Gaslini, Genoa, Italy; 4Instituto de Criança – FMUSP, Rio de Janeiro, Brazil
Baseline explanatory variable | OR (95% CI) | P£ |
---|---|---|
Diseaseduration ≤ 3.9 years | 6.78 (1.30-35.27) | 0.012 |
Active joint count ≤ 10 | 8.25 (1.26-53.91) | 0.012 |
Ferritin > 444 ng/dL | 4.75 (1.16-19.50) | 0.020 |
Systemicmanifestationscore > 3 | 6.44 (1.38-24.62) | 0.007 |
P2067 Canakinumab treatment in adult-onset Still’s disease: case series
Serdal Ugurlu1, Gul Guzelant1, Berna Yurttas1, Bilgesu Ergezen1, Ediz Dalkilic2, Timucin Kasifoglu3, Burcu Yagiz2, Huri Ozdogan1
1Istanbul University, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rhematology, Cerrahpaşa Medical Faculty, Istanbul; 2Uludag University, Medical Faculty, Department of Internal Medicine, Division of Rhematology, Uludag Medical Faculty, Bursa; 3Osmangazi University, Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Osmangazi Medical Faculty, Eskisehir, Turkey
Before Canakinumab | After Canakinumab | p | |
---|---|---|---|
Ferritin value (mean ± SD) (ng/ml) | 1292.3 ± 1530 | 218.1 ± 327.1 | 0.056 |
Patient-reported global visual analogue scale (PG-VAS) | 7.9 ± 2.4 | 1.4 ± 2 | <0.0001 |
Mean Erythrocyte sedimentation rate (ESR) | 51 ± 39.4 | 18.8 ± 21.6 | 0.036 |
Therapy of systemic auto-inflammatory diseases
P2068 Microbiota transplant to control inflammation in a NLRC4-related disease patient with recurrent hemophagocytic lymphohistiocytosis (HLH)
Claudia Bracaglia1, Giulia Marucci1, Federica Del Chierico2, Alessandra Russo2, Manuela Pardeo1, Antonella Insalaco1, Giusi Prencipe1, Ivan Caiello1, Sarka Fingerhutova3, Pavla Dolezalova3, Fabrizio De Benedetti1, Lorenza Putignani2,4
1Division of Rheumatology; 2Unit of Human Microbiome, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy; 3Paediatric Rheumatology and Autoinflammatory Diseases Unit, General University Hospital, Prague, Czech Republic; 4Unit of Parasitology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
P2069 Emapalumab, an anti-interferon gamma monoclonal antibody in two patients with NLRC4- related disease and severe hemophagocytic lymphohistiocytosis (HLH)
Claudia Bracaglia1, Giusi Prencipe1, Antonella Insalaco1, Ivan Caiello1, Giulia Marucci1, Manuela Pardeo1, Raffaele Pecoraro2, Pavla Dolezalova3, Sarka Fingerhutova3, Maria Ballabio4, Cristina de Min4, Fabrizio De Benedetti1
1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù; 2Pediatric Department, La Sapienza University of Rome, Rome, Italy; 3Paediatric Rheumatology and Autoinflammatory Diseases Unit, General University Hospital, Prague, Czech Republic; 4Novimmune, S.A., Geneva, Switzerland
P2070 IL-1 blockade in paediatric recurrent pericarditis: a multicentric retrospective study of the Italian cohort
Roberta Caorsi, Antonella Insalaco, Chiara Longo, Giorgia Martini, Marco Cattalini, Rita Consolini, Giovanni Filocamo, Alessandro Rimini, Silvia Federici, Camilla Celani, Maria Cristina Maggio, Micol Romano, Barbara Teruzzi, Andrea Taddio, Angela Miniaci, Silvana Martino, Francesco Latorre, Alessandro De Fanti, Giulio Cavalli, Berbara Bigucci, Antonio Brucato, Fabrizio De Benedetti, Marco Gattorno and The Italian study group on anti-IL-1 drugs’ efficacy in recurrent pericarditis
Center of Autoinflammatory Diseases and Immunodeficiencies, Department of Pediatrics and Rheumatology, Istituto G. Gaslini, Genova, Italy
P2071 Efficacy and safety of anakinra in the treatment of inflammatory heart failure in myocarditis
Giacomo De Luca, Corrado Campochiaro, Giulio Cavalli, Silvia Sartorelli, Lorenzo Dagna
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy
Females/males, n | 5/6 |
Mean age, years | 46,2±12,2 |
Clinical onset, n(%) | |
Heart failure (LV-EF<55%) | 8(72.7) |
Chest pain | 2(18.2) |
Dyspnea | 1(9.1) |
NYHA class III-IV, n(%) | 8(72.7) |
EBM classification*, n(%) | |
i-DCM | 6(54.5) |
Acute/active/chronic VNM | 3(27.3)/1(9.1)/1(9.1) |
P2072 Efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome
Abdulkadir A. Elmi1, Karen Wynne2, Iek L. Cheng2, Despina Eleftheriou2, Helen J. Lachmann3, Philip N. Hawkins3, Paul Brogan1,2
1Infection Inflammation and Rheumatology Section, University College London Institute of Child Health; 2Department of Paediatric Rheumatology, Great Ormond Street Hospital NHS Foundation Trust; 3National Amyloidosis Centre, UCL Centre for Amyloidosis and Acute Phase Proteins, London, United Kingdom
P2073 Anti-IL-1 therapies in patients with familial Mediterranean fever related AA-amyloidosis
Serdal Ugurlu1, Bilgesu Ergezen2, Oguzhan Selvi1, Bugra H. Egeli1, Huri Ozdogan2
1Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty; 2University of Istanbul - Cerrahpasa, Istanbul, Turkey
Before treatment | After treatment | p | Before treatment | After treatment | p | Before treatment | After treatment | p | |
---|---|---|---|---|---|---|---|---|---|
Group 1 | Anakinra(n= 19) | Canakinumab (n=10) | All anti IL-1 (n=23) | ||||||
Creatinine (mg/dl) | 0,9 ± 0,28 | 0,9 ± 0,44 | <0,01 | 1,35 ± 1,57 | 1,78 ± 1,93 | 0,01 | 0,8 ± 0,25 | 1,3 ± 1,5 | <0,01 |
Proteinuria (mg/day) | 2686 ± 3257 | 2328 ± 4458 | <0,01 | 6000 ± 5550 | 3730 ± 5030 | <0,01 | 2780 ± 3323 | 1365 ± 2365 | <0,01 |
ESR(0-20 mm/h) | 43,5 ± 31,3 | 19,3 ± 26,4 | <0,01 | 51,22 ± 33,54 | 17,1 ± 31,2 | <0,01 | 44,8 ± 31,1 | 17,6 ± 31,1 | <0,01 |
Group 2 | Anakinra(n= 13) | Canakinumab (n=9) | All anti IL-1 (n=17) | ||||||
Creatinine (mg/dl) | 3,3 ± 2,4 | 3,4 ± 2,4 | <0,01 | 3,1 ± 2,4 | 3,2 ± 2,5 | <0,01 | 3,54 ± 2,62 | 3,5 ± 2,59 | <0,01 |
Proteinuria (mg/day) | 5482 ± 8040 | 3651 ±4635 | 0,01 | 7670 ± 7600 | 7585 ± 6830 | 0,01 | 5347 ± 7377 | 3130 ± 4764 | 0.01 |
ESR (0-20 mm/h) | 56,8 ± 35,1 | 31,3 ± 17,8 | <0,01 | 51,22 ± 33,54 | 34,55 ± 27,19 | <0,01 | 56,8 ± 34,6 | 38,8 ± 27,6 | <0,01 |
P2074 Anti-interleukin-1 prescription in adult patients with familial Mediterranean fever: a real-life study from the French national reference center
Antoine Fayand1, Léa Savey1, Véronique Hentgen2, Pierre Quartier3, Claude Bachmeyer1, Joris Galland1, Serge Amselem4, Camille Louvrier4, Irina Giurgea4, Gilles Grateau1, Sophie Georgin-Lavialle1 and French National Reference Center for Autoinflammatory Diseases
1Internal Medicine, AP-HP, Tenon Hospital, PARIS; 2General Pediatry, CH Versailles, André Mignot, Versailles; 3Pediatric Rheumatology, AP-HP, Necker Hospital; 4Medical Genetics, AP-HP, Trousseau Hospital, PARIS, France
P2075 Effectiveness of anti-IL6 drug (Tocilizumab) in pulmonary alveolar proteinosis associated to severe persistent systemic inflammation: a case report
Ilaria Gueli1, Roberta Caorsi1, Oliviero Sacco2, Donata Girosi2, Gian Michele Magnano3, Angelo Ravelli1, Marco Gattorno1, PaoloPicco1
1Rheumatology Unit; 2Pulmonology Unit; 3Radiology Unit, Giannina Gaslini Institute, Genoa, Italy
P2076 Is fibrodysplasia ossificans progressiva an interleukin-1 driven auto-inflammatory syndrome?
Ruby Haviv1, Veronica Moshe1, Noa Rabinowicz1, Giusi Prencipe2, Fabrizio De Benedetti2, Yosef Uziel1
1Pediatric Rheumatology Unit, Department of Pediatrics, Meir Medical Center and Sackler School of Medicine (Tel-Aviv University), Kfar Saba, Israel; 2Division of Rheumatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
P2077 Kawakinra: a phase IIA multicenter trial to assess the efficacy, and safety of anakinra in patients with intravenous immunoglobulin-resistant Kawasaki disease
Isabelle Koné-Paut1, Stephanie Tellier2, Karine Brochard2, Virginie Lambert3, Corinne Guitton1, Alexandre Belot4, Perrine Dusser1, Linda Rossi-Semerano1, Isabelle Marie1, Gregory Allain5, Helene Agostini5, Celine Piedvache5
1Pediatric Rheumatology, APHP, Bicetre Hospital, Le Kremlin Bicêtre; 2Pediatrics, CHU Purpan, Toulouse; 3Pediatric Cardiology, Montsouris Institute, Paris; 4Pediatric Rheumatology, CHU Lyon, Lyon; 5Clinical Research Unit, APHP, Bicetre Hospital, Le Kremlin Bicêtre, France
P2078 Continuous effectiveness of canakinumab treatment in Schnitzler’s syndrome: a 4-year open-label multi-center study
Karoline Krause1, Hanna Bonnekoh1, André Ellrich1, Athanasios Tsianakas2, Nicola Wagner3, Jörg Fischer4, Marcus Maurer1
1Charite - Universitaetsmedizin Berlin, Berlin; 2Universitätsklinikum Münster, Münster; 3Klinikum Erlangen, Erlangen; 4Universitätsklinik Tübingen, Tübingen, Germany
P2079 Long-term effectiveness of canakinumab in patients with monogenic periodic fever syndromes – first interim analysis of the CAPS subgroup
Jasmin B. Kuemmerle-Deschner1, Norbert Blank2, Michael Borte3, Ivan Foeldvari 4, Gerd Horneff5, Prasad Oommen6, Catharina Schuetz7, Frank Weller-Heinemann8, Julia Weber-Arden9, Tilmann Kallinich10
1Pediatrics, University Hospital Tuebingen, Tuebingen; 2Rheumatology, University Hospital Heidelberg, Heidelberg; 3ImmnoDeficiencyCenter, Hospital St. Georg, Leipzig; 4Center for Pediatric and Adolescence Rheumatology, Hamburg; 5Asklepios Clinic, Sankt Augustin; 6Pediatrics, University Hospital Duesseldorf, Duesseldorf; 7Pediatric Immunology, University Hospital Carl Gustav Carus, Dresden; 8Pediatric Rheumatology, Prof. Hess Kinderklink, Bremen; 9Novartis Pharma GmbH, Nuremberg; 10Pediatrics, Charité University Hospital, Berlin, Germany
Baseline, all patients, N=52 | Baseline, analysis cohort, N=31 | Month 6, analysis cohort, N=31 | |
---|---|---|---|
Disease activity by physicians’ assessment: absent, mild/moderate, severe, % of patients | |||
Urticarial skin rash | 71.4, 20.4,4.1 | 67.7, 19.4, 6.5 | 74.2, 25.8, 0.0 |
Arthralgia | 67.3, 30.6, 2.0 | 67.7, 32.3, 0.0 | 61.3, 29.0, 9.7 |
Myalgia | 91.8, 6.1, 0.0 | 87.1, 9.7, 0.0 | 83.9, 16.1, 0.0 |
Conjunctivitis | 71.4, 26.5, 2.0 | 64.5, 32.3, 3.2 | 77.4, 12.9, 6.5 |
Headaches | 69.4, 22.4, 6.1 | 64.5, 22.6, 9.7 | 61.3, 19.4, 19.4 |
Abdominal pain | 81.6, 14.3, 4.1 | 83.9, 9.7, 6.5 | 67.7, 22.6, 9.7 |
Patients’ assessment | |||
Mean disease activity, visual analog scale (VAS) 0–10 | 2.1 | 2.0 | 1.8 |
Mean Fatigue, VAS 0–10 | 2.6 | 2.5 | 2.7 |
Impairment of social life, % | 52.6 | 54.5 | 24.0 |
P2080 The effectiveness of anti-TNF therapy in association of familial Mediterranean fever and ankylosing spondylitis
Sevgi Atar, Baris Colak, Omer Kuru
Departmant of Physical Medicine and Rehabilitation Division of Rheumatology, University of Health Sciences, Istanbul Okmeydani Research and Training Hospital , Istanbul, Turkey
P2081 Desensitization to anakinra in refractory recurrent pericarditis
C. Longo1, S. Signa1, M. D'Alessandro1, M. Bustaffa1, R. Consolini2, M. Tosca3, L.O. Mendonça4, A. Ravelli1,5, R. Caorsi5, M. Gattorno5
1Department of Pediatrics, Università degli studi di Genova, Genoa; 2Department of Pediatrics, Università degli studi di Pisa, Pisa; 3U.O. Pneumologia, G. Gaslini Institute, Genoa, Italy; 4Clinical Immunology and Allergy Department, HC-FMUSP, Sao Paulo, Brazil; 5Clinica Pediatrica e Reumatologia, G. Gaslini Institute, Genoa, Italy
P2082 One decade real life experience with anti-IL1 therapy in monogenic and multifactorial autoinflammatory diseases
Leonardo O. Mendonca, Andressa Guariento, Roberta Caorsi, Sara Signa, Ilaria Gueli, Angelo Ravelli, Marco Gattorno
Pediatric Rheumatology Clinic, Istituto Giannina Gaslini, Genoa, Italy
P2083 A prospective outcome of all 17 consecutive pediatric patients with chronic nonbacterial osteomyelitis treated with intravenous pamidronate and followed at a single center over 15 years
Paivi Miettunen1, Chloe M. Stephenson1, Seamus L. Stephenson1, XIng-Chang Wei2
1Pediatrics; 2Radiology, University of Calgary, Calgary, Canada
P2084 Efficacy of anakinra in the treatment of recurrent idiopathic pericarditis in pediatric population: experience in a tertiary hospital
Sara Murias1, Luis García-Guereta2, Rosa Alcobendas1, Diana Salas2, Clara Udaondo1, Pablo Fernandez1, Catarina Fervenza1, Agustin Remesal1
1Pediatric Rheumatology; 2Pediatric Cardiology, University Hospital La Paz, Madrid, Spain
Pacient 1 | Pacient 2 | Pacient 3 | Pacient 4 | Pacient 5 | Pacient 6 | Pacient 7 | |
---|---|---|---|---|---|---|---|
Age at onset (years) | 9 | 11 | 3 | 12 | 15 | 17 | 1.2 |
Time from onset to first ANK use | 9 | 24 | 12 | 24 | 2 | 2 | 6 |
Former therapies | Ibuprofene Colchicine Prednisone | Ibuprofene Dexametasone Colchicine | Ibuprofene Prednisone Colchicine | Ibuprofene Prednisone Colchicine | Ibuprofene Prednisone Colchicine | Ibuprofene Prednisone Colchicine | Indometacine Colchicine Prednisolone |
Symptoms associated to pericarditis* | Fever Asthenia Pleuritis Peritonitis | Fever Asthenia Skin rash Pleuritis | Fever Abdominal pain | Pachypleuritis | Fever Asthenia | Febricula Pleuritis | Hepatomegaly |
CRP (mg/L)* | 104 | 250 | 162 | 350 | 56 | 150 | 16 |
Related disease | No | SoJIA and MAS | No | FMF (mutations M694l and R202Q) | No | Renal trasplantation due to vasculitis | No |
CRP (mg/L)** | 0.54 | 0.8 | 1.63 | 0.59 | 2.43 | 48 | Not done yet |
Number offlares after starting ANK | 0 | 1 flare, 30 days after ANK withdrawal | 0 | 1 flare, 35 days after voluntarily stopping ANK | 0 | 0 | 0 |
Current treatment | None (ANK withdrawn: september 2015) | ANK 100 mg /day | ANK 75 mg every 72 hours | ANK 100 mg/day | ANK 75 mg every 72 hours | ANK 100 mg/day | ANK 50 mg/day |
P2085 Clinical manifestations and treatment of idiopathic recurrent aseptic meningitis (IRAM)
Michele Nehrebecky1, David Beck1, Amanda Ombrello1, Ariane Soldatos2, Bryan Smith2, Patrycja M Hoffman1, Lauren Reoma2, Avindra Nath2, Karyl S. Barron3, Anne Jones1, Ivona Aksentijevich1, William A. Gahl1, Camilo Toro1, Daniel L. Kastner1
1NIH/NHGRI; 2NIH/NINDS; 3NIH/NIAID, Bethesda, United States
P2086 Autoinflammatory syndrome caused by mutations in TRNT1: successful treatment of two cases with etanercept
Francesca Orlando1,2, Roberta Naddei2, Carlo Maria Gallinoro2, Daniela Melis2, Maria Alessio2
1Department of Pediatrics, Santobono-Pausilipon Children’s Hospital; 2Department of Mother and Child, University of Naples Federico II, Naples, Italy
P2087 Does colchicine really cause leukopenia?
Erdal Sag1, Yagmur Bayindir2, Aydin Adiguzel2, Selcan Demir1, Yelda Bilginer1, Selin Aytac3, Seza Ozen1
1Division of Pediatric Rheumatology; 2Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey; 3Division of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
P2088 Mycophenolate mofetil (MMF) in defined and undefined interferonopathies
Carmela Gerarda Luana Raffaele, Gianmarco Moneta, Silvia Federici, Manuela Pardeo, Claudia Bracaglia, Fabrizio De Benedetti, Antonella Insalaco
Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | Pt 6 | Pt 7 | |
---|---|---|---|---|---|---|---|
Disease | SAVI (lung and skin involvement, systemic inflammation) | Aicardi Goutieres (neurological involvement, rash, fever) | Undefined (epilepsy, arthritis,skin involvement) | Undefined (recurrent fever, hypertransaminasemia, hemophagocytic lymphohistiocytosis) | Undefined (hemiplegia) | Undefined (epilepsy, arthritis,skin involvement) | Undefined (recurrent fever, lymphadenopathy, hypogammaglobulinemia |
Clinical improvment after MMF | Resolution of lung involvement | Resolution of fever and rash | Resolution of rash, arthritis, improvement of seizures | Resolution of fever, inflammation and hypertransaminasemia | Improvement of motility | Resolution of arthritis and skin involvement | Resolution of fever and limphadenopathy |
Gender | F | F | M | M | M | F | M |
Age at onset (yrs) | 3 (days) | 2 | 4 | 7 | 4 | 6 | 16 |
WBC/ mmc3* | 16 /7,4 | 8,0/8,4 | 9,8/8,5 | 1,7/8,4 | 4,4/8,2 | 4,4/5,2 | 6,6/5,9 |
Hb g/dl * | 7,7/8,9 | 8,5/12,3 | 12,9/12,8 | 9,7/13 | 12,1/10,7 | 12/12,9 | 11,5/15,1 |
PLT/mmc3 * | 950 /766 | 680/320 | 194/181 | 56/161 | 358/421 | 381/390 | 218/323 |
ESR (mm) * | 44/40 | 49/9 | 38/10 | 7/6 | 2/5 | 24/6 | 3/3 |
CRP (mg/dl) * | 1,22/0,73 | 3,13/0,06 | 5,55/0,32 | <0,05/<0,05 | <0,05/<0,05 | 1,15/<0,05 | 8,34/0,98 |
SAA (mg/dl)* | 95,8/3,62 | 5,37/2,82 | 188/8,11 | -/1,89 | <0,84/- | 4,19-0,78 | / |
C3 (90-180mg/dl)* | 154/134 | 122/108 | 81/92 | 83/118 | 203/170 | 127/108 | 53/133 |
C4 (10-40 mg/dl)* | 22/22 | 10/24 | 6/8 | 16/27 | 38/28 | 24/14 | 15/41 |
Antinuclear antibody* | Absent | 1:2560/1:160 | 1:10.240/1:1280 | Absent | Absent | 1: 2560 /1:320 | Absent |
ENA* | pANCA:40/1:20 | Absent | Anti dsDNA 1:1280/1: 160 | Absent | Absent | Anti dsDNA 1:320/1:40 | Absent |
IFN signature* | 43,2/18,3 | 42,6/79,8 | 54,73/64,6 | 8,66/18,19 | 40,6/5,95 | 171,5/13,12 | 14,34/2,24 |
P2089 Successful IL-17 targeted therapy in a patient with severe Blau syndrome and novel NOD2 mutation
Nikolaus Rieber1, Maximilian Steinhauser1, Matthias Klopfer2, Sabine Pietzsch3, Peter Strotmann1, Harald Engelhardt3, Uta Behrends1, Rainer Berendes3, Stefan Burdach1
1Department of Pediatrics, Kinderklinik Muenchen Schwabing, München-Klinik Schwabing und Klinikum rechts der Isar, Technical University of Munich; 2Department of Ophthalmology, Technical University of Munich, Munich; 3Kinderklinik St. Marien Landshut , Landshut, Germany
P2090 Recurrent fevers associated with neurodevelopmental disorders and their treatment with anakinra
Tina M. Romeo, Amanda K. Ombrello, Karyl Barron, Anne Jones, Seth Berger, Ann C. Smith, Daniel L. Kastner, Deborah L. Stone
National Institues of Health/NHGRI, Bethesda, United States
P2091 Hematopoietic stem cell transplantation (HSCT) successfully curedtwo patients with PSTPIP1-associated autoinflammatory diseases (PAMI)
Alexandra Laberko1, Daria Yukhacheva1, Irina Shipitsina2, Maria Dunaykina2, Anna Kozlova1, Vasilii Burlakov1, Irina Mersiyanova3, Yulia Rodina1, Elena Raykina3, Dmitrii Balashov2, Larisa Shelikhova2, Anna Shcherbina1
1Immunology; 2Hematopoietic Stem Cell Transplantation; 3Laboratory of Molecular Biology, National Medical Research Center of Hematology, Oncology and Immunology named after D. Rogachev, Moscow, Moscow, Russian Federation
P2092 Response to JAK inhibition in two children with haploinsufficiency of A20 (HA20) caused by truncating mutations in the ZNF4 domain
Deborah L. Stone, Amanda K. Ombrello, Karyl Barron, Tina Romeo, Natalia Sampaio Moura, Ivona Aksentijevich, Daniel L. Kastner
National Institutes of Health, U.S., Bethesda, United States
P2093 Squalene synthase inhibitors to regulate the inflammation in mevalonate kinase deficiency
Annalisa Marcuzzi1, Elisa Piscianz1, Erica Valencic2, Alessandra Tesser2, Andrea Taddio1,2, Alberto Tommasini2
1University of Trieste; 2IRCCS Burlo Garofolo Trieste, Trieste, Italy
P2094 IL1Β blockade by canakinumab leads into remission recurrent pericarditis associated with the MEFV variant P.GLU148GLN (E148 Q)
Maria Tsinti1, Maria Zamanakou2, Vasiliki Dermentzoglou1, Elena Tsitsami1
1Pediatric Rheumatology Unit, First Department of Pediatrics, School Of Medicine, University Of Athens, Children’s Hospital “Aghia Sofia”, Greece, Athens; 2CeMIA, Larissa, Greece
P2095 Anakinra treatment in recurrent pericarditis: single center experience
Zeynep Toker Dincer, Osman Corbali, Serdal Ugurlu, Huri Ozdogan
Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul - Cerrahpasa, Istanbul, Turkey
Patient ID # | Age | Sex | Diagnosis | Duration of pericarditisfollow-up (mo) | Prior medications | Number of recurrences before anakinra | Anakinra treatment duration (mo) | Time to corticosteroid discontinuation (mo) | Number of recurrences after daily dose of anakinra |
---|---|---|---|---|---|---|---|---|---|
1* | 23 | M | IRP | 129 | Colchicine, NSAIDs, CS, HCQ | 6 | 52 | 9 | No |
2 | 32 | F | IRP | 128 | Colchicine, NSAIDs | 7 | 4 | NA | No |
3* | 40 | F | IRP | 21 | Colchicine, CS | 6 | 8 | 1 | No |
4 | 20 | M | IRP | 11 | Colchicine, CS | 3 | 8 | 2 | No |
5 | 25 | M | FMF | 30 | Colchicine, CS | 5 | 15 | 1 | No |
Immunedysregulation
P2096 Inaugural hemophagocytic syndrome in autoimmune diseases: a case series
Laura Damian1, Manuela Sfichi2, Mihaela Lupse3, Simona Cocu4, Laura Urian5, Cristina Pamfil6, Mihnea Zdrenghea5, Ina Kacso7, Simona Rednic6, Anca Bojan5
1Rheumatology; 2Immunology, Emergency Clinical County Hospital Cluj; 3Infectious Diseases; 4Intensive Care; 5Hematology; 6Rheumatology; 7Nephrology, “Iuliu Hatieganu” University of Medicine Cluj, Cluj-Napoca, Romania
No | S | Age | Trigger | Disease | Therapy | Outcome | Observations |
---|---|---|---|---|---|---|---|
1. | F | 72 | Resp. Virus | IIM | life support (ICU); MP pulses; cyclosporine; immunoglobulins | survival | ARF; hypoC4 Atypical rash |
2. | F | 56 | Acute cholecystitis | PG | Life support (ICU); immunoglobulins; MP, CyA | survival | |
3. | F | 58 | viral | RA | MP, CyA, MTX | survival | |
4. | F | 46 | ? | SLE/SSj (Ro52) | MP, CyA | survival | Evolved to Systemic sclerosis |
5. | F | 49 | Q fever | SLE/SSj (Ro52) cryoglobulinemia | Life support (ICU); plasma exchange; MP, CyA | survival | TMHA; hypoC3, C4 |
6. | M | 23 | ? | PAN | MP, CyA | survival | |
7. | F | 25 | ? | SLE | MP, CyA | survival | |
8. | F | 57 | Resp. virus | inflammatory idiopathic myopathy | MP pulses; CyA, then Aza | survival | Atypical rash |
P2097 Assessing the mutation detection rate and genotype-phenotype correlation with a large haemato-immunological NGS panel: crossing the borders among different subspecialties
Alice Grossi1, Maurizio Miano2, Stefano Volpi3, Roberta Caorsi3, Francesca Fioredda2, Marina Lanciotti2, Enrico Capelli2, Carlo Dufour2, Marco Gattorno3, Isabella Ceccherini1
1UOC Genetica Medica; 2UOC Ematologia; 3Clinica Pediatrica Reumatologia e UOSD Centro Malattie Autoinfiammatorie-Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genova, Italy
GENE PANEL 1 | GENE PANEL 2 | GENE PANEL 3 | |
---|---|---|---|
Library_capture technology | Ampliseq_ThermoFisher | Haloplex HS_Agilent | Haloplex_Agilent |
#genes | 58 | 146 | 315 |
Target size | 209,54 kbp | 341,073 kpb | 769,995 kpb |
Target bases analyzable (coverage) | 197,35kbp (94,18%) | 337,24kbp (98,88%) | 750,99kbp (97,53%) |
#patients analyzed | 30 | 51 | 69 |
Mean total variant called/filtered | 127/4 | 641/14 | 1413/25 |
P2098 Vitamin D status & its therapeutic role in pediatric patients with idiopathic nephrotic syndrome
Dina E. Sallam
Paediatric, Ain Shams University hospital, Cairo, Egypt
P2099 Immune reconstitution in autoinflammatory CANDLE like syndrome due to SAMD9L mutation
Analia G. Seminario1, María S. Caldirola1, Ileana Moreira1, Valeria Regairaz1, Marco Gattorno2, Raphaela Goldbach-Mansky3, Liliana Bezrodnik1
1Immunology, Centro de Inmunología Clínica Dra Bezrodnik, Buenos Aires, Argentina; 2Rheumatology, IRCCS Istituto Giannina Gaslini, Genova, Italy; 3Translational Autoinflammatory Disease Studies, NIH/NIAID/LCID, Bethesda, United States
P2100 FASL gene mutation in a child with autoimmune lymphoproliferative syndrome
Madhubala Sharma1, Amit Rawat1, Deepti Suri1, Vignesh Pandiarajan1, Koon W. Chan2, Yu L. Lau2, Surjit Singh1
1Allergy amd Immunology Department, Post Graduate Institute of Medical Education and Research, Chandigarh, India; 2Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong
P2101 Characteristics of the immunological status in patients with systemic and articular form of juvenile idiopathic arthritis
Anna Y. Spivakovskaya, Yuri Spivakovskiy, Yuri Chernenkov
Depertment of Hospitality Pediatrics, Saratov State Medical University, Saratov, Russian Federation
Unusual or unsolved case reports
P2102 Early onset Behcets disease in an Indian family: is it related to A20 haploinsufficiency?
Vignesh Pandiarajan, Deepti Suri, Amit Rawat, Anju Gupta, Surjit Singh
Allergy Immunology Unit, Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
P2103 Two types of systemic amyloidosis in a single patient
Riccardo Papa1, Janet A. Gilbertson2, Nigel Rendell2, Ashutosh D. Wechalekar2, Julian D. Gillmore2, Philip N. Hawkins2, Helen J. Lachmann2
1Clinica Pediatrica e Reumatologia, IRCCS Istituto Giannina Gaslini, Genova, Italy; 2National Amyloidosis Centre, University College London Medical School, Royal Free Hospital Campus, London, United Kingdom
P2104 MAFB not seems to regulate serum C1Q concentration in humans
Riccardo Papa1, Annalisa Madeo2, Stefano Volpi1, Roberta Caorsi1, Giancarlo Barbano3, Marina Botto4, Andrea Superti-Furga5, Marco Gattorno1, Maja Di Rocco2, Paolo Picco1
1Clinica Pediatrica e Reumatologia; 2Malattie Rare; 3Nefrologia e Trapianto di Rene, IRCCS Istituto Giannina Gaslini, Genova, Italy; 4Faculty of Medicine, Imperial College London, London, United Kingdom; 5Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Patient A | Patient B | Patient C | |
---|---|---|---|
Age (years); gender; country of origin | 14; M; Croatia | 16; M; Italy | 11; F; Russia |
MAFB mutation | c.184A>G, p.Thr62Ala | c.172A>G, p.Thr58Ala | c.208T>C, p.Ser70Pro |
Bone lesions onset (age; years) | 5 | 8 | 8 |
Presentation | Bilateral | Monolateral | Monolateral |
Site | Tarsus | Carpus | Carpus |
Current state (except carpotarsal joints) | Elbows and knees contractures | Knees contractures | None |
Nephropathy onset (age; years) | 3 | 9 | None |
Current state | Proteinuria (720mg/24h) | Proteinuria (1.3g/24h) | Normal kidney function |
Serum C1q concentration | 174 mg/l | 312 mg/l | 176 mg/l |
P2105 Sibship with uveitis and sensorineural hearing loss
Pallavi Pimpale Chavan1, Mayur Morekar2, Raju P. Khubchandani1
1Section of Pediatric Rheumatology, SRCC Children’s Hospital; 2Consultant Eye Surgeon, Bombay Hospital & Medical Research Centre, Mumbai, India
P2106 An unsolved case including granulomatous panuveitis from India
Pallavi Pimpale Chavan1, Mihir Kothari2, Raju P. Khubchandani1
1Section of Pediatric Rheumatology, Jaslok Hospital and Research Centre; 2Pediatric Ophthalmologist, Jyotirmay eye clinic for children and binocular vision laboratory, Mumbai, India
P2107 An unsolved case: is this a Candle-like syndrome?
Alessia Pin1, Alessandra Tesser2, Flavio Faletra2, Alberto Tommasini2, Serena Pastore2, Andrea Taddio1,2
1Department of Medicine, Surgery and Health Sciences, University of Trieste, Italy; 2Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy, Trieste, Italy
P2108 A case of sting-associated vasculopathy with onset in infancy (SAVI) without skin involvement
Carmela Gerarda Luana Raffaele, Virginia Messia, Manuela Pardeo, Camilla Celani, Silvia Federici, Gianmarco Moneta, Ivan Caiello, Claudia Bracaglia, Fabrizio De Benedetti, Antonella Insalaco
Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy
P2109 A boy with severe phenotype of immune deficiency and relapsing hyperinflammationcured with a hematopoietic stemcell transplantation
Kim Ramme1, Yenan Bryceson2, Mikael Sundin1, Sofie Vonlanthen3, Anna Carin Horne4
1Pediatric Hemathology, Karolinska Hospital; 2Department of Medicine, Karolinska Institutet; 3Molecular Biology; 4Department of Paediatric Rheumatology, Karolinska Hospital, Stockholm, Sweden
P2110 Two genes and one phenotype: same therapy?
Silvia Ricci1, Ilaria Pagnini1, Elena Sieni2, Chiara Azzari1, Martina Cortimiglia1, Giusi Mangone1, Lorenzo Lodi1, Elisa Calistri1
1Pediatric Immunology, AOU Meyer- University of Florence, Florence, Italy; 2Paediatric Haematology/Oncology, AOU Meyer- University of Florence, Florence, Italy
P2111 Autoinflammatory phenotype as a mask of oncological pathology
Evgeny Fedorov, Svetlana Salugina
Nassonova Research Institute of Rheumatology, Moscow, Russian Federation
P2112 Coexistence of familial Mediterranean fever with celiac disease in armenian patient (case report)
Hasmik Sargsyan
Pediatrics N2, Yerevan State Medical University, Yerevan, Armenia
P2113 Inflammation arising on combined genetic background characterized by simultaneous occurrence of NOD2 and IFNGR1 mutations
Anna Sediva1, Zuzana Parackova1, Markéta Bloomfield1, Adam Klocperk1, Irena Zentsova1, Michael Svaton2, Eva Froňková2
1Department of Immunology; 2Department of Pediatric Hematooncology, Motolm University Hospital, 2nd School of Medicine, Charles University, Prague, Czech Republic, Prague, Czech Republic
P2114 Relapsing-remitting systemic and neurological symptoms in Griscelli disease
Alessandra Tozzo1, Nicoletta Milani1, Gianluca Marucci2, Luisa Chiapparini3, Alessandra Erbetta3, Elena Sieni4, Nardo Nardocci1
1Neuropsichiatria Infantile; 2Anatomia Patologica; 3UOC Neuroradiologia, Fondazione IRCCS Istituto Neurologico Besta; 4Oncoematologia Pediatrica, Azienda Ospedaliero-Universitaria A.Meyer, Milano, Italy
P2115 Deficiency of adenosine deaminase 2: the importance of a diagnosis before irreversible damage
Elena Tronconi1, Francesca Conti1, Duccio M. Cordelli2, Stefano Volpi3, Marco Gattorno3, Andrea Pession1, Angela Miniaci1
1Department of Pediatrics; 2Child Neurology and Psychiatry Unit, Pediatric Department, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna; 3Clinica Pediatria e Reumatologia, Istituto Giannina Gaslini, Genova, Italy
P2116 The case study of undifferentiated autoinflammatory disease treated with anakinra
Marina Visnevska1, Anija Meiere1, Zane Davidsone1, Ruta Santere2, Valda Stanevica1
1Rīga Stradiņš University; 2Children's Clinical University Hospital, Riga, Latvia
P2117 Etanercept in the treatment of familial Mediterranean fever: a case report
Yeli̇z Zahi̇roglu
Rheumatology, Health Sciences University, Samsun Education and Research Hospital, ılkadım, Turkey
New monogenic diseases
P2118 A case of neonatal-onset proteasome-associated autoinflammation and immunodeficiency disease resembling but distinct from Nakajo-Nishimura syndrome
Noriko Kinjo1, Satoru Hamada1, Koichi Nakanishi1, Hiroyuki Mishima2, Akira Kinoshita2, Koh-Ichiro Yoshiura2, Tsunehiro Mizushima3, Jun Hamazaki4, Shigeo Murata4, Hiroaki Hemmi5, Tsuneyasu Kaisho5, Nobuo Kanazawa6
1Department of Pediatrics, University of the Ryukyus., Nishihara-cho, Okinawa; 2Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki; 3Picobiology Institute, Graduate School of Life Science, University of Hyogo; 4Laboratory of Protein Metabolism, Graduate School of Pharmaceutical Sciences, University of Tokyo, Tokyo; 5Department of Immunology, Institute for Advanced Medicine, Wakayama Medical University; 6Department of Dermatology, Wakayama Medical University, Wakayama, Japan
P2119 Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) in a five months oldboy
Anna Kozlova, Ekaterina Viktorova, Viktoria Zaharova, Dmitriy Konovalov, Aleksandra Terentieva, Vasiliy Burlakov, Elena Raikina, Natalia Kuzmenko, Julia Rodina, Alexsey Maschan, Anna Shcherbina
Immunology, National Medical Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev , Moscow, Russian Federation
P2120 A case of novel identified proteasome-related autoinflammation and immunodeficiency syndrome caused by PSMB9 mutation
Hidenori Ohnishi1, Shinsuke Kataoka2, Hideki Muramatsu2, Emi Kadoi3, Nobuo Kanazawa4, Satoshi Okada5, Yoshitaka Honda6, Kazushi Izawa6, Ryuta Nishikomori6, Takeshi Taketani7, Jun Hamazaki8, Shigeo Murata8, Yoshiyuki Takahashi2, Toshiyuki Fukao9
1Pediatrics, Graduate School of Medicine, Gifu University, Gifu; 2Pediatrics, Nagoya University Graduate School of Medicine, Nagoya; 3Pediatrics, Gifu City Hospital, Gifu; 4Dermatology, Wakayama Medical University, Wakayama; 5Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima; 6Pediatrics, Kyoto University Hospital, Kyoto; 7Pediatrics, Shimane University Faculty of Medicine, Izumo; 8Laboratory of Protein Metabolism, Graduate School of Pharmaceutical Science, University of Tokyo, Tokyo; 9Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan
P2121 ‘Non-self’ mutation: double-stranded RNA elicits antiviral pathogenic response in a drosophila model of expanded CAG repeat neurodegenerative diseases
Rob Richards1, Saumya Samaraweera1, Andrew Scott1, Dani Webber1, David Harvey1, Olivia Mecinger1, Louise O'Keefe1, Jen Cropley2, Paul Young2, Joshua Ho2, Cath Suter2
1Molecular and Biomedical Sciences, The University of Adelaide, Adelaide; 2Victor Chang Cardiac Research Institute, Sydney, Australia
I have a possible gene or a strange phenotype. Looking for a second case
P2122 A family with SAVI-like vasculopathy, arthritis and cold-induced inflammatory urticarial rash
Ester Conversano1, Elisa Piscianz1, Erica Valencic2, Alessandra Tesser2, Alberto Tommasini2, Serena Pastore2, Valentina Moressa3, Alessia Omenetti4, Bianca Lattanzi4, Giulia Gortani2, Andrea Taddio1,5
1University of Trieste; 2Institute for Maternal and Child Health IRCCS Burlo Garofolo; 3University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste; 4Pediatric Division, Ospedali Riuniti ‘Salesi Children’s Hospital’, Ancona, Italy, Ancona; 5Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy, Trieste, Italy
Patient | Age | Sex | Mutation | State of mutations | Interferon Signature | Lymphocyte pTBK1 LPS (NS) | Monocyte pTBK1 LPS (NS) |
---|---|---|---|---|---|---|---|
1 | 2 | F | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | 3.8(3.9) | 1.7(1) |
2 | 42 | M | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | 3.7(4.7) | 3.2(2.7) |
3 | 40 | M | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | - | - |
Twin brother pt1 | 2 | M | ZC3H12D:c.C564A | Het | Intermediate | 4.2(3.4) | 1.2(0.9) |
Mother pt1 | 37 | F | - | - | Negative | 6.7(3.7) | 4(1.4) |