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Pediatric Rheumatology

Ausgabe Sonderheft 1/2015 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Inhalt (284 Artikel)

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

  • Open Access
  • Oral presentation

A Standing, D Eleftheriou, C Paisan-Ruiz, D Rowcenzio, Y Hong, E Omoyinmi, P Woo, P Hawkins, H Lachmann, N Klein, P Brogan

Whole exome sequencing in systemic juvenile idiopathic arthritis

  • Open Access
  • Oral presentation

F Moghaddas, D De Nardo, P Baker, L Gordon, S Sadedin, A Oshlack, J Akikusa, R Allen, J Munro, J Ellis, S Masters

Role of RNH1 in the regulation of RNase H2 function

  • Open Access
  • Oral presentation

B Kind, F Schmidt, S Kretschmer, A Shevchenko, MA Lee-Kirsch

Generation of inducible immortalized bone marrow derived cell lines expressing mutant procaspase-1 C284A on a caspase-1 knock-out background

  • Open Access
  • Oral presentation

F Kapplusch, F Kulling, S Reinke, M Heymann, S Russ, A Gocht, K Höhne, S Winkler, A Rösen-Wolff, K Anastassiadis, S Hofmann

Colchicine trial in PFAPA Syndrome and MEFV-negative patients

  • Open Access
  • Oral presentation

C Kadhim, F Maiolini, L Cerrito, LL Sicignano, M Giovinale, E Verrecchia, F Gurrieri, M Genuardi, R Manna

Functional analysis of macrophages in Behçet's disease

  • Open Access
  • Oral presentation

H Nakano, Y Kirino, K Higashitani, M Takeno, A Ueda, Y Ishigatsubo

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

  • Open Access
  • Oral presentation

J Van Montfrans, E Hartman, K Braun, F Hennekam, A Hak, P Nederkoorn, W Westendorp, R Bredius, W Kollen, E Scholvinck, G Legger, I Meyts, A Liston, K Lichtenbelt, J Giltay, G Van Haaften, G De Vries Simons, H Leavis, S Nierkens, C Sanders, M Van Gijn

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry

  • Open Access
  • Oral presentation

R Caorsi, D Marotto, A Insalaco, A Marzano, J Frenkel, A Martini, F De Benedetti, M Gattorno

Differential expression of miR-4520a is associated with gain of function mutations in Familial Mediterranean Fever (FMF)

  • Open Access
  • Oral presentation

H Latsoudis, MF Mashreghi, J Gruen, H-D Chang, B Stuhlmueller, A Repa, I Gergiannaki, E Kabouraki, P Papakosta, T Haeupl, A Radbruch, P Sidiropoulos, D Kardassis, D Boumpas, G Goulielmos

Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

  • Open Access
  • Oral presentation

YH Park, D Kastner, JJ Chae

Familial Mediterranean Fever in childhood: a single center experience

  • Open Access
  • Oral presentation

K Barut, AB Sinoplu, G Yucel, G Pamuk, A Adrovic, S Sahin, O Kasapcopur

Investigation of the inflammatory cell migration process in familial Mediterranean fever

  • Open Access
  • Oral presentation

YZ Akkaya Ulum, E Avci, ED Batu, O Karadag, S Ozen, N Purali, E Yilmaz, B Balci Peynircioglu

Molecular modeling of complete tertiary structure of pyrin and influence of mutations on it

  • Open Access
  • Oral presentation

G Arakelov, K Nazaryan

First report of MEFV duplication in FMF patient

  • Open Access
  • Oral presentation

G Sarrabay, D Méchin, B Dumont, M André, I Touitou

Endothelial biomarkers in patients with familial Mediterranean fever associated vascular disease and vasculopathy

  • Open Access
  • Oral presentation

Y Sargsyan, A Sargsyan

NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

  • Open Access
  • Oral presentation

G Sarrabay, G Tachon, D Mechin, I Touitou

Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation

  • Open Access
  • Oral presentation

A Standing, D Malinova, J Record, D Moulding, M Blundell, K Nowak, H Jones, E Omoyinmi, S Nanthapisal, S Melo Gomes, Y Hong, N Klein, D Eleftheriou, A Thrasher, P Brogan

Update on CECR1 molecular diagnostics: new mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohort

  • Open Access
  • Oral presentation

M Stoffels, Q Zhou, C Chen, I Aksentijevich, DL Kastner, PA Merkel

Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)

  • Open Access
  • Oral presentation

K Barron, A Ombrello, D Stone, P Hoffmann, I Aksentijevich, Q Zhou, A Jones, D Kastner

NLRP1 mutations cause autoinflammatory diseases in human

  • Open Access
  • Oral presentation

S Grandemange, E Sanchez, P Louis-Plence, C Rittore, JC Reed, I Touitou, D Geneviève

Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants

  • Open Access
  • Oral presentation

L Raganelli, G Prencipe, V Messia, I Caiello, FR Lepri, E Pisaneschi, F De Benedetti, A Insalaco

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes

  • Open Access
  • Oral presentation

M Rusmini, S Federici, F Caroli, A Grossi, M Baldi, L Obici, A Insalaco, A Tommasini, R Caorsi, E Gallo, AN Olivieri, AV Marzano, D Coviello, R Ravazzolo, A Martini, M Gattorno, I Ceccherini

Pathological and immunological features of autoinflammatory syndrome associated with lymphedema (AISLE)

  • Open Access
  • Oral presentation

A Gul, H Ozdogan, S Ugurlu, O Kasapcopur, N Buyukbabani, U Emekli, Z Emrence, D Ustek

Severe peripheral blood lymphopenia without NK cell cytotoxicty deficiency is the rule in adult acquired HLH

  • Open Access
  • Oral presentation

J Carvelli, C Piperoglou, F Vely, C Farnarier, K Mazodier, J-R Harle, E Vivier, G Kaplanski

A significant role for tumor necrosis factor in Nlrp3 inflammasomeopathies

  • Open Access
  • Oral presentation

M McGeough, A Wree, C Pena, M Inzaugarat, A Feldstein, H Hoffman

Altered expression of IL-10 family cytokines in CRMO result in enhanced inflammasome activation

  • Open Access
  • Oral presentation

S Hofmann, A Kubasch, A Rösen-Wolff, H Girschick, H Morbach, C Hedrich

Neutralization of Interferon-gamma is efficacious in a mouse model of HLH secondary to chronic inflammation

  • Open Access
  • Oral presentation

G Prencipe, I Caiello, C Bracaglia, C de Min, F De Benedetti

Hexameric S100A12 is required for pro-inflammatory TLR4-signalling

  • Open Access
  • Oral presentation

C Kessel, S Fühner, S Brockmeyer, H Wittkowski, D Föll

Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE)

  • Open Access
  • Oral presentation

G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao, J Dare, S Schalm, R Merino, D Chapelle, H Kim, S Judd, M O'Brien, A Almeida De Jesus, Y Kim, B Kost, Y Huang, S Paul, A Brofferio, C-C Lee, C Hadigan, T Heller, C Minniti, K Rother, R Goldbach-Mansky

Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation

  • Open Access
  • Oral presentation

L Malle, B Marrero, Y Liu, G Montealegre, D Chapelle, H Kim, M O'Brien, S Hill, JR Fontana, S Ramsey, G Duckers, S Ozen, A Issekutz, H Wittkowski, D Foell, K Tenbrock, O Jones, S Holland, B Gonzalez, P Brogan, E Omoyinmi, S Melo Gomes, A Paller, Z Deng, R Goldback-Mansky, A Almeida de Jesus

Spontaneous Type I IFN response in SAMHD1-deficient mice requires both, functional intracellular RNA and DNA sensing pathways

  • Open Access
  • Oral presentation

R Behrendt, T Schumann, A Gerbaulet, S Wittmann, T Gramberg, A Roers

Tracing cellular sources of pathogenic type I-interferon in the TREX1-/- mouse model of lupus like-disease

  • Open Access
  • Oral presentation

K Peschke, K Frenzel, M Achleitner, M Kleefisch, A Gerbaulet, M Prinz, A Roers, R Behrendt

Stratification of patients with autoinflammatory phenotypes by interferon (IFN) score suggests a new group of IFN mediated autoinflammatory diseases with overlapping clinical phenotypes

  • Open Access
  • Oral presentation

A Almeida de Jesus, Z Deng, S Brooks, H Kim, G Montealegre, D Chapelle, Y Liu, B Marrero, L Malle, M O'Brien, W Goodspeed, Y Huang, P Hashkes, G Nasrullayeva, MT Terreri, C Silva, B Arabshahi, K O'Neill, M Punaro, L Moorthy, A Reinhardt, V Lilleby, J Niemela, S Rosenzweig, T Fleisher, R Goldbach-Mansky

Neurology of the Cryopyrin-Associated Periodic Feversyndrome

  • Open Access
  • Oral presentation

T Parker, S Keddie, D Kidd, M Maviki, T Lane, P Hawkins, L Ginsberg, H Lachmann

Novel mutation in NLRP3 Exon 7 results in sensorineural hearing loss without chronic inflammation

  • Open Access
  • Oral presentation

L Broderick, S Cherukumilli Grevich, C Putnam, H Hoffman

Pharmacokinetics of Canakinumab in children younger than 2 years old with CAPS

  • Open Access
  • Oral presentation

J Kalabus, P Brogan, M Hofer, J Kuemmerle-Deschner, B Lauwerys, A Speziale, R Laxer, H Sun, K Abrams, K Leon, G Junge

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

  • Open Access
  • Oral presentation

A Ombrello, D Stone, P Hoffmann, A Jones, B Barham, K Barron, W Flegel, S Sheldon, Q Zhou, M Hershfield, I Aksentijevich, P Kumar, D Kastner

Pulmonary hypertension in familial Mediterranean fever: consequence or coincidence?

  • Open Access
  • Oral presentation

A Sargsyan, M Narimanyan

Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration

  • Open Access
  • Oral presentation

D Rowczenio, D Iancu, H Trojer, J Gilbertson, J Gillmore, A Wechalekar, M Tekman, H Stanescu, R Kleta, T Lane, P Hawkins, H Lachmann

Unified modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes

  • Open Access
  • Oral presentation

A Gul, Y Bozkurt, A Demir, B Erman

Colchicine therapy in children with FMF

  • Open Access
  • Oral presentation

A-M Knieper, J Klotsche, D Föll, H Wittkowski, E Lainka, T Kallinich

Canakinumab therapy in patients with Familial Mediterranean Fever

  • Open Access
  • Oral presentation

S Ugurlu, E Seyahi, G Hatemi, A Hacioglu, H Ozcan, FN Akkoc, H Ozdogan

Semaphorin 3A, a potential immune regulator in Familial Mediterranean Fever

  • Open Access
  • Oral presentation

D Rimar, I Rosner, G Slobodin, N Boulman, L Kaly, M Rozenbaum, Z Vadasz

Factors affecting cardiovascular morbidity in young FMF patients. A comparative analysis in colchicine treated FMF patients with and without cardiovascular disease

  • Open Access
  • Oral presentation

AJ Roitman, I Ben Zvi, O Kukuy, A Livneh

Altered cytokine pattern and inflammatory pathways in monogenic and complex autoinflammatory diseases

  • Open Access
  • Oral presentation

P Galozzi, O Negm, P Sfriso, P Tighe, I Todd, L Punzi

Two types of human Th17 cells with pro- and anti-inflammatory properties and distinct roles in autoinflammation

  • Open Access
  • Oral presentation

R Noster, H de Koning, F Sallusto, C Zielinski

A unifying molecular mechanism underlying the association of CARD14 alleles with autoinflammatory and T-cell mediated skin disorders

  • Open Access
  • Oral presentation

D Berki, S-E Choon, AD Burden, C Griffiths, C Smith, J Barker, F Capon

An optimized whole blood assay measuring expression and activity of NLRP3-, NLRC4 and AIM2-inflammasomes

  • Open Access
  • Oral presentation

L Grinstein, H Luksch, AAB Robertson, MA Cooper, S Winkler, A Rösen-Wolff

Cofilin-1 is an essential redox sensor for NLRP3 inflammasome activation

  • Open Access
  • Oral presentation

YH Park, D Kastner, JJ Chae

Enzymatically inactive caspase-1 mediates a proinflammatory phenotype in mice

  • Open Access
  • Oral presentation

S Reinke, A Gocht, H Luksch, A Rösen-Wolff, S Winkler

Monocytes and neutrophils in the inflammatory cascade of systemic onset Juvenile Idiopathic Arthritis

  • Open Access
  • Oral presentation

N ter Haar, W de Jager, R Scholman, P Leliefeld, T Tak, B Vastert, S de Roock

NextGen sequencing (NGS) panel for hereditary recurrent fevers: mutation spectrum, novel mutations, and evidence for re-classification of common variants based on analysis of >3000 cases from North America

  • Open Access
  • Oral presentation

G Richard, C Lauricella, Z Xu, I Aksentijevich

Mevalonate kinase deficiency: an early onset inflammatory bowel disease?

  • Open Access
  • Oral presentation

A Martins, D Berrebi, L De Lumley, B Petit, B Pellegrino, A Arion, C Jeanne-Pasquier, T Lequerre, I Pellier, M Guillot, A Faye, O Goullet, B Bader-Meunier, I Melki

Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

  • Open Access
  • Oral presentation

J Jeyaratnam, N ter Haar, M de Sain-van der Velden, H Waterham, M van Gijn, J Frenkel

Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study

  • Open Access
  • Oral presentation

JI Aróstegui, J Anton, I Calvo, A Robles, A Speziale, Y Joubert, G Junge, J Yagüe

Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study

  • Open Access
  • Oral presentation

H Lachmann, M Cattalini, L Obici, R Barcellona, A Speziale, Y Joubert, G Junge, M Gattorno

First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene

  • Open Access
  • Oral presentation

D Rowczenio, E Omoyinmi, H Trojer, T Lane, P Brogan, P Hawkins, H Lachmann

Influence of the naturally occurring human CASP1 variant L265S on subcellular distribution and pyroptosis

  • Open Access
  • Oral presentation

S Rabe, MC Heymann, R Stein, F Kapplusch, S Russ, F Schulze, S Winkler, W Staroske, A Rösen-Wolff, SR Hofmann

Familial chilblain lupus caused by an activating mutation in STING

  • Open Access
  • Oral presentation

N König, C Fiehn, H-M Lorenz, MA Lee-Kirsch

Interferon gamma (IFNg) drives disease in the TLR9-mediated cytokine storm syndrome in mice

  • Open Access
  • Oral presentation

C de Min, V Buatois, L Chatel, L Cons, F De Benedetti, M Kosco-Vilbois, W Ferlin

S100A12 as diagnostic tool in the differential diagnosis of sJIA associated MAS vs. hereditary or acquired HLH

  • Open Access
  • Oral presentation

D Holzinger, N Fall, A Grom, W de Jager, S Vastert, R Strippoli, C Bracaglia, E Sundberg, A Horne, S Ehl, F De Benedetti, K Beutel, D Foell

A decade of anti-IL-1 therapy in CAPS - a spectrum of efficacy in this spectrum of diseases

  • Open Access
  • Oral presentation

T Lane, RG Williams, DM Rowczenio, T Youngstein, H Trojer, RJ Pepper, PA Brogan, PN Hawkins, HJ Lachmann

Effectiveness of canakinumab treatment in Schnitzler's syndrome: a multi-center randomized placebo-controlled study

  • Open Access
  • Oral presentation

K Krause, A Tsianakas, N Wagner, J Fischer, K Weller, M Metz, M Maurer

International experience of pregnancy outcomes in auto-inflammatory syndromes treated with Interleukin-1 inhibitors

  • Open Access
  • Oral presentation

T Youngstein, P Hoffmann, T Lane, R Williams, D Rowczenio, H Ozdogan, S Urgurlu, J Ryan, L Harty, S Riminton, A Headley, J Roesler, N Blank, C Michler, A Simon, P Hawkins, H Lachmann

Anti interferon-gamma (IFNγ) monoclonal antibody treatment in a patient carrying an NLRC4 mutation and severe hemophagocytic lymphohistiocytosis

  • Open Access
  • Oral presentation

C Bracaglia, A Gatto, M Pardeo, G Lapeyre, W Ferlin, R Nelson, C de Min, F De Benedetti

Empirical use of anakinra in AA amyloidosis of uncertain aetiology

  • Open Access
  • Oral presentation

T Lane, DM Rowczenio, JA Gilbertson, JD Gillmore, AD Wechalekar, PN Hawkins, HJ Lachmann

A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein

  • Open Access
  • Oral presentation

Q Zhou, H Wang, J Chae, D Yang, E Demirkaya, M Stoffels, M Takeuchi, C Chen, A Ombrello, D Schwartz, P Hoffmann, D Stone, R Laxer, AV Royen-Kerkhof, S Ozen, M Gadina, D Kastner, I Aksentijevich

A functional inflammasome activation assaydifferentiates patients with pathogenic NLRP3mutations and symptomatic patients with lowpenetrance variants

  • Open Access
  • Oral presentation

N Rieber, A Gavrilov, L Hofer, A Singh, H Öz, T Endres, I Schäfer, R Handgretinger, D Hartl, J Kümmerle-Deschner

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

  • Open Access
  • Oral presentation

M Ombrello, E Remmers, E Zeggini, W Thomson, D Kastner, P Woo

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

  • Open Access
  • Oral presentation

JI Arostegui, R Rabionet, A Remesal, A Mensa-Vilaro, S Murias, R Alcobendas, E Gonzalez-Roca, O Dreschsel, E Ruiz-Ortiz, A Puig, D Comas, S Ossowski, J Yagüe, X Estivill, R Merino

Serum biomarkers for the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO)

  • Open Access
  • Oral presentation

S Hofmann, A-S Kubasch, U Range, M Laass, A Rösen-Wolff, T Schwarz, C Hofmann, H Girschick, H Morbach, C Hedrich

Long-term outcomes of tonsillectomy in children with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome

  • Open Access
  • Oral presentation

L Broderick, D Carvalho, A Magit, W Jiang, S Leuin, M Bothwell, D Kearns, S Pransky, H Hoffman

Enzymatically inactive procaspase-1 stabilizes the ASC-pyroptosome

  • Open Access
  • Oral presentation

R Stein, MC Heymann, F Kapplusch, S Russ, W Staroske, A Rösen-Wolff, SR Hofmann

Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency

  • Open Access
  • Oral presentation

R Caorsi, A Omenetti, A Morreale, A Insalaco, A Buoncompagni, P Picco, C Malattia, C Gandolfo, I Aksentievic, A Martini, M Gattorno

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

  • Open Access
  • Oral presentation

E Gonzalez-Roca, E Ruiz-Ortiz, MC Anton, S Plaza, A Mensa-Vilaro, J Yagüe, JI Arostegui

Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome

  • Open Access
  • Oral presentation

S Chiesa, R Caorsi, I Ingrosso, F Bellora, F Penco, A Bertoni, C Pastorino, A Omenetti, M Finetti, S Borghini, A Sementa, R D'Agostino, A Martini, M Gattorno

Long term efficacy and safety of canakinumab in children with systemic juvenile idiopathic arthritis with and without fever

  • Open Access
  • Oral presentation

G Horneff, N Ruperto, H Brunner, P Quartier, T Constantin, E Alexeeva, I Kone-Paut, K Marzan, N Wulffraat, R Schneider, S Padeh, V Chasnyk, C Wouters, J Kummerle Deschner, T Kallinich, B Lauwerys, E Haddad, E Nasonov, M Trachana, O Vougiouka, K Abrams, K Leon, K Lheritier, A Martini, D Lovell

High levels of interferon-gamma (IFNγ) in macrophage activation syndrome (MAS) and CXCL9 levels as a biomarker for IFNγ production in MAS

  • Open Access
  • Oral presentation

C Bracaglia, D Pires Marafon, I Caiello, K de Graaf, F Guilhot, W Ferlin, S Davì, G Schulert, A Ravelli, A Grom, R Nelson, C de Min, F De Benedetti

STING-associated vasculopathy with onset in infancy: new clinical findings and mutation in three Turkish children

  • Open Access
  • Oral presentation

F Kara Eroglu, I Gursel, M Gursel, A Duzova, AA de Jesus, RT Goldbach-Mansky, S Ozen

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus

  • Open Access
  • Oral presentation

C Günther, B Kind, MAM Reijns, N Berndt, M Martinez-Bueno, C Wolf, V Tüngler, O Chara, YA Lee, N Hübner, YA Lee, L Bicknell, S Blum, C Krug, F Schmidt, C Krug, S Kretschmer, S Koss, KR Astell, G Ramantani, A Bauerfeind, DL Morris, DS Cunninghame Graham, D Bubeck, A Leitch, SH Ralston, EA Blackburn, M Gahr, T Witte, TJ Vyse, I Melchers, E Mangold, MM Nöthen, M Aringer, A Kuhn, K Lüthke, L Unger, A Bley, A Lorenzi, JD Isaacs, D Alexopoulou, K Conrad, A Dahl, A Roers, ME Alarcon-Riquelme, AP Jackson, MA Lee-Kirsch

Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke

  • Open Access
  • Oral presentation

R Caorsi, A Grossi, A Insalaco, M Alessio, S Martino, E Cortis, A Morreale, F Caroli, A Martini, I Ceccherini, M Gattorno

Immune dysregulation in patients with TRNT1 deficiency

  • Open Access
  • Oral presentation

A Giannelou, Q Zhou, M Stoffels, D Stone, A Ombrello, K Barron, H Su, K Risma, L Sramkova, A Sediva, S Joshi, A Al Sonbul, H-W Sun, M Quezado, M Gadina, I Aksentijevich, DL Kastner

Efficacy, safety, and post-vaccination antibody titer data in children with CAPS treated with Canakinumab

  • Open Access
  • Poster presentation

P Brogan, M Hofer, J Kuemmerle-Deschner, B Lauwerys, A Speziale, K Abrams, K Leon, X Wei, R Laxer

A case with IGG4-related retroperitoneal fibrosis-periaortitis rapidly diagnosed and dramatically responded to steroid treatment

  • Open Access
  • Poster presentation

Y Karaaslan, Z Ozbalkan Aslar, S Can Sandikci

Long-term safety and efficacy of Canakinumab in cryopyrin-associated periodic syndrome (CAPS) patients: results from beta-confident registry

  • Open Access
  • Poster presentation

J Kuemmerle-Deschner, H Hoffman, PN Hawkins, T van der Poll, UA Walker, A Speziale, HH Tilson

Genes responding to Canakinumab therapy in SJIA are -inversely - disregulated in adult onset Still's disease

  • Open Access
  • Poster presentation

A Brachat, E Feist, F Behrens, N Blank, NR Nirmala, C Specker, M Witt, J Zernicke, A Martini, G Junge

Monogenetic autoinflammatory syndromes and nephrology - therapy is usefull even in advanced kidney failure

  • Open Access
  • Poster presentation

K Hohenstein-Scheibenecker, A Schmidt

Correlation between serum amyloid-A and serum levels of proinflammatory cytokines in patients with Behçet's disease

  • Open Access
  • Poster presentation

OM Lucherini, G Lopalco, L Cantarini, A Vitale, C Rotondo, A Lopalco, R Talarico, M Galeazzi, G Lapadula, F Iannone

Monogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience

  • Open Access
  • Poster presentation

S Nanthapisal, C Murphy, E Omoyinmi, A Standing, Y Hong, SM Gomes, N Klein, D Eleftheriou, PA Brogan

A case with febrile attacks and vasculopathy associated with ADA2 and MEFV gene mutations

  • Open Access
  • Poster presentation

H Ozdogan, S Ugurlu, A Hacioglu, E Tahir Turanli, A Kirectepe Aydin

Serum IL-18 is a specific biomarker for Macrophage Activation Syndrome across several autoinflammatory diseases

  • Open Access
  • Poster presentation

SW Canna, AA de Jesus, G Shi, Y Huang, GA Montealegre Sanchez, I Gery, R Goldbach-Mansky

Interleukin-1 receptor antagonist treatment revealed active hepatitis B infection in a boy with PAPA syndrome

  • Open Access
  • Poster presentation

V Selmanovic, F DeBenedeti, A Omercahić-Dizdarevic, E Kovac-Vidakovic, S Mehanic, A Cengic

Monogenic interferonopathy presenting as CMV infection in infancy

  • Open Access
  • Poster presentation

C Schütz, C Frisch, M Hoenig, J Crow, K Schwarz, K Debatin, A Schulz

Various inflammatory phenotypes in V200M NLRP3 carriers

  • Open Access
  • Poster presentation

A Kozlova, V Bobrynina, T Varlamova, A Maschan, A Shcherbina

Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk

  • Open Access
  • Poster presentation

EF Remmers, M Takeuchi, MJ Ombrello, Y Kirino, B Erer, I Tugal-Tutkun, E Seyahi, Y Ozyazgan, A Gul, DL Kastner

The frequency of MEFV gene variations in Adult-onset Still's disease and Gout

  • Open Access
  • Poster presentation

S Ugurlu, AS Emekli, E Tahir Turanli, SG Benyakar, G Çelikyapı Erdem, H Ozdogan, E Seyahi

Challenging the opinion that SAPHO syndrome is associated with low intracellular ROS production in neutrophils

  • Open Access
  • Poster presentation

P Wekell, H Björnsdottir, L Björkman, M Sundqvist, K Christenson, V Osla, S Berg, A Fasth, A Welin, J Bylund, A Karlsson

Expression of Caspase-1 variants induced ER stress

  • Open Access
  • Poster presentation

H Luksch, V Schlipfenbacher, S Köhler, F Münch, S Winkler, F Schulze, J Roesler, A Rösen-Wolff

A transgenic in vitro cell model for the analysis of proinflammatory effects of naturally occurring genetic variants of caspase-1

  • Open Access
  • Poster presentation

F Schulze, E Hengst, S Winkler, A Rösen-Wolff

The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants

  • Open Access
  • Poster presentation

A Bybee, O Negm, W Abduljabbar, L Fairclough, H Lachmann, T Lane, I Todd, P Hawkins, P Tighe

Severe macrophage activation syndrome. Is there a causative role for a homozygous A91V mutation in the perforin gene?

  • Open Access
  • Poster presentation

H Girschick, R Rossi, U Kölsch, S Ammann, P Lohse, H Morbach, H von Bernuth, S Ehl

In search of human proteins and infectious triggers involved in periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

  • Open Access
  • Poster presentation

K Chisholm, A Bhatt, S Freemman, F Duke, R Fuhlbrigge, M Kenna, G Licameli, M Meyerson, S Vargas, F Dedeoglu

The patient experience of Colchicine Resistant-Familial Mediterranean Fever (cr-FMF)

  • Open Access
  • Poster presentation

P Dandekar, J Gregson, R Campbell, F Bourhis

Living with Tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS)

  • Open Access
  • Poster presentation

P Dandekar, J Gregson, R Campbell, F Bianic

Hyper Immunoglobulin D syndrome (HIDS): understanding what it is like to live with this rare condition

  • Open Access
  • Poster presentation

P Dandekar, J Gregson, R Campbell, F Bourhis

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency

  • Open Access
  • Poster presentation

J Jeyaratnam, N ter Haar, H Lachmann, A Simon, P Brogan, M Doglio, M Cattalini, J Anton, C Modesto, P Quartier, J Frenkel, M Gattorno

Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective

  • Open Access
  • Poster presentation

I Ben-Zvi, Y Shinar, R Cohen, C Grossman, O Kukuy, A Livneh

Variant CAPS in an adult- the use of genetics

  • Open Access
  • Poster presentation

M Rozenbam, D Rimar, L Kaly, G Slobodin, A Awisat, I Rosner

IL-1 inhibition in Muckle-Wells-Syndrome: withdrawal resulting in rapid deterioration of hearing loss

  • Open Access
  • Poster presentation

S Hansmann, K Ambjoernsen, A Koitschev, SM Benseler, JB Kuemmerle-Deschner

Development of the autoinflammatory disease damage index (ADDI)

  • Open Access
  • Poster presentation

K Annink, N ter Haar, M Gattorno, H Lachmann, J Kuemmerle-Deschner, S Ozen, R Goldbach-Mansky, K Durrant, O Della Casa Alberighi, J Frenkel

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

  • Open Access
  • Poster presentation

N Volker-Touw, H de Koning, T van Kempen, K Oberndorff, M van Steensel, J Giltay, M Boes, C de Kovel, A Simon, J Frenkel, M van Gijn

A large family having Muckle Wells Syndrome

  • Open Access
  • Poster presentation

SS Kilic, S Cekic

French Amyloidosis CAPS study: AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 14 cases and review of 53 cases from literature

  • Open Access
  • Poster presentation

S Georgin-Lavialle, K Stankovic Stojanovic, D Buob, P Quartier, B Neven, I Kone-Paut, E Hachulla, A Belot, L Cuisset, S Anselm, G Grateau

Characterisation of human iPS cells harbouring the p.A329T variant of caspase-1

  • Open Access
  • Poster presentation

J Thiem, A Rösen-Wolff

Detection of low frequency variants of the NLRP3 gene in “mutation- negative” CAPS patients using massive parallel sequencing

  • Open Access
  • Poster presentation

J Thiem, M Lesche, A Dahl, A Kränkel, J Roesler, A Rösen-Wolff

Diagnostics of CAPS in Quebec thanks to teaching program

  • Open Access
  • Poster presentation

A-L Chetaille, A Albert, K Adams, P Fortin, L Michou

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

  • Open Access
  • Poster presentation

E Ruiz-Ortiz, E Gonzalez-Roca, A Mensa-Vilaro, J Rius, S Plaza, C Anton, I Calvo, C Modesto, J Anton, C Arnal, C Alvarez, J Alvarez-Coca, E Becerra, N Bilbao, M Camacho, J Crespo, C de Diego, LF Diez-Garcia, L Espinosa, D Garcia-Escriva, F de Gracia, MI Gonzalez, E Iglesias, S Izquierdo, B Lastra, P Llobet, B Lopez, V Lopez-Gonzalez, R Martinez, MA Martin-Mateos, R Merino, L Ortega, ME Peiro, I Perez de Soto, C Perez-Mendez, V Rodriguez-Valverde, A Ribes, A Ruiz, B Sanchez, JL Santos, B Sevilla, J Sotoca, J Vilas, A Villoria, J Yagüe, JI Arostegui

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

  • Open Access
  • Poster presentation

D Rowczenio, S Melo Gomes, J Aróstegui, E Omoyinmi, E Gonzalez-Roca, A Standing, D Eleftheriou, N Klein, P Brogan, H Lachmann, P Hawkins

Clinical symptoms and molecular investigations in 13 patients with Schnitzler syndrome identified at the single UK centre

  • Open Access
  • Poster presentation

D Rowczenio, H Trojer, A Baginska, J Gillmore, A Wechalekar, P Hawkins, H Lachmann

Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?

  • Open Access
  • Poster presentation

C Rittore, E Sanchez, S Soler, V Ea, D Genevieve, I Touitou, S Grandemange

The clinical phenotype of Israeli patients with Q703K mutation in the NLRP3 gene

  • Open Access
  • Poster presentation

M Lidar, A Livneh, I Ben Zvi, R Cohen, Y Berkun, P Hashkes, H Peleg, A Kessel, R Almog, L Kali, G Slobodin, M Rozenbaum, Y Shinar

Atypical clinical presentation of a severe Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) without mutation in the TNFRSF1A gene and good response to anakinra. Case report of a ten year old girl with fever, skin edema and abdominal pain (AID-registry)

  • Open Access
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F Hamsen, C Müntjes, W Kampmann, B Schweiger, U Neudorf, E Lainka

A 56 year old woman with clinically significant p.Arg121Gln-/R92Q TNFRSF1A mutation

  • Open Access
  • Poster presentation

I von Mühlenen, B Claviezel

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

  • Open Access
  • Poster presentation

S Melo Gomes, J Arostegui, E Omoyinmi, A Standing, N Klein, H Lachmann, P Hawkins, P Brogan

Impact of hereditary periodic fever syndromes and its change over time

  • Open Access
  • Poster presentation

M Niewerth, T Kallinich, A Hospach, R Behrendes, A Thon, K Minden

NLRP3 Q703K and TNFRSF1A R92Q mutations in a patient with auto inflammatory disease

  • Open Access
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I von Mühlenen, C Gabay, A Finckh, J Kuemmerle-Deschner

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency

  • Open Access
  • Poster presentation

Y Shinar, PJ Hashkes, R Cohen, A Kessel, I Tirosh, S Padeh, J Arostegui, A Livneh

Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study

  • Open Access
  • Poster presentation

JS Hausmann, C Biggs, F Dedeoglu

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

  • Open Access
  • Poster presentation

MG Elferink, P van Zon, J Frenkel, W Harts, A Simon, A van Royen-Kerkhof, J Swart, H-K Ploos van Amstel, M van Gijn

Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)

  • Open Access
  • Poster presentation

FR Lepri, E Pisaneschi, D Minervino, V Messia, M Pardeo, F de Benedetti, A Insalaco

Chronic recurrent multifocal osteomyelitis (CRMO): typical patterns of bone involvement on MRI with particular emphasis on Whole Body MRI (WBMRI)

  • Open Access
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L Tanturri de Horatio, I Casazza, S Savelli, M Pardeo, V Messia, D Barbuti, P Tomà, F de Benedetti, A Insalaco

A case of systemic juvenile idiopathic arthritis with pulmonary hemosiderosis secondary to recurrent macrophage activation syndrome or a new autoinflammatory syndrome?

  • Open Access
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K Barut, V Sen, A Adrovic, AB Sinoplu, O Kasapcopur

Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)

  • Open Access
  • Poster presentation

D Konukbay, D Yildiz, C Acikel, B Sozeri, B Makay, NA Ayaz, K Barut, A Kisaarslan, Y Bilginer, H Peru, O Erdogan, E Unsal, O Kasapcopur, Z Gunduz, A Ravelli, I Kone-Paut, J Frenkel, M Gattorno, S Ozen, E Demirkaya

Role of polymorphonucleates in the pathogenesis of systemic juvenile idiopathic arthritis and Still's disease: a proof of concept study

  • Open Access
  • Poster presentation

F Magnotti, OM Lucherini, C De Clemente, R Talarico, G Emmi, M Galeazzi, R Cimaz, L Cantarini

Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)

  • Open Access
  • Poster presentation

S Signa, M Rusmini, E Campione, I Gueli, A Grossi, A Omenetti, L Bianchi, A Martini, I Ceccherini, M Gattorno

Whole-Body MRI versus bone scintigraphy: which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?

  • Open Access
  • Poster presentation

MF Villani, L Tanturri de Horatio, MC Garganese, I Casazza, S Savelli, M Pardeo, V Messia, F De Benedetti, A Insalaco

NOD2 mosaicism in Blau syndrome

  • Open Access
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A Mensa-Vilaro, J De Inocencio, W Tarng Cham, E Gonzalez-Roca, P Tejada-Palacios, S Ping Tang, E Ruiz-Ortiz, E Enriquez-Merayo, S Chin Lim, G Magri, S Plaza, MC Anton, A Cerutti, R Ariffin, J Yagüe, JI Arostegui

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism

  • Open Access
  • Poster presentation

A Mensa-Vilaro, MT Bosque-Peralta, E Gonzalez-Roca, M Casorran-Berges, C Delgado-Beltran, S Plaza, MC Anton, E Ruiz-Ortiz, J Yagüe, JI Arostegui

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

  • Open Access
  • Poster presentation

E Gonzalez-Roca, A Mensa-Vilaro, S Plaza, MC Anton, J Rius, E Ruiz-Ortiz, JM Campistol, A Souto, J Cañellas, K Nakagawa, R Nishikomori, J Yagüe, JI Arostegui

A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

  • Open Access
  • Poster presentation

ED Batu, O Karadag, EZ Taskiran, U Kalyoncu, I Aksentijevich, M Alikasifoglu, S Ozen

Interleukin (IL)- 6 inhibition - Follow-up data of the German AID-registry1

  • Open Access
  • Poster presentation

M Bielak, E Husmann, N Weyandt, JP Haas, G Horneff, T Lutz, E Lilienthal, T Kallinich, K Tenbrock, R Berendes, G Dückers, H Wittkowski, E Weißbarth-Riedel, G Heubner, PT Oommen, J Klotsche, U Neudorf, D Föll, T Niehues, E Lainka

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

  • Open Access
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B Erer, E Remmers, M Takeuchi, D Ustek, I Tugal-Tutkun, E Seyahi, Y Ozyazgan, A Gul, M Ombrello, D Kastner

B cells characterization in ADA2 Deficiency patients

  • Open Access
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F Schena, S Volpi, R Caorsi, C Pastorino, F Penco, F Kalli, A Omenetti, S Chiesa, A Bertoni, P Picco, G Filaci, I Aksentijevich, A Grossi, I Ceccherini, A Martini, E Traggiai, M Gattorno

Atypical manifestations in CAPS sydrome: not so unfrequent?

  • Open Access
  • Poster presentation

S Buján-Rivas, M Basagaña-Torrentó, C Modesto-Caballero, JI Aróstegui-Gorospe, M Vilardell-Tarrès, J Yagüe

A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features

  • Open Access
  • Poster presentation

I Jéru, L Van Eyck, V Lagou, J Ruuth-Praz, B Copin, E Cochet, A Liston, A Goris, S Amselem, C Wouters

Differences in disease activity in cryopyrin-associated periodic syndrome in mutation-positive and mutation-negative patients

  • Open Access
  • Poster presentation

M Kostik, L Snegireva, I Babikova, E Kalashnikova, A Rakhimyanova, G Glazyrina, T Knyazeva, L Richkova, V Chasnyk

Enlarging the clinical spectrum of SAVI syndrome

  • Open Access
  • Poster presentation

R Caorsi, G Rice, S Volpi, F Cardinale, A Buoncompagni, Y Crow, A Martini, M Gattorno, P Picco

Familial Mediterranean Fever and Human autoinflammatory diseases

  • Open Access
  • Poster presentation

L Hovhannisyan

The IL-1 inhibitor Canakinumab for Familial Mediterranean Fever: the Greek experience in 12 patients

  • Open Access
  • Poster presentation

K Laskari, P Boura, GN Dalekos, A Garyfallos, D Karokis, D Pikazis, L Settas, G Skarantavos, E Tsitsami, PP Sfikakis

Toll like receptor 2 is overexpressed in FMF patients during attacks and inhibited by colchicine treatment

  • Open Access
  • Poster presentation

H Ben-David, V Hornung, T Ebert, A Livneh, I Ben-Zvi

Does the age at disease onset cause a delay in diagnosis and affect disease severity in the children with familial Mediterranean fever?

  • Open Access
  • Poster presentation

O Kuru, O Ozkaya, G Alayli, G Genc, D Durmus, A Bilgici, HE Sen

MEFV mutation carriage as possible predisposition factor for the development of Post Pericardiotomy Syndrome (PPS)

  • Open Access
  • Poster presentation

ID Dechtman, I Ben-Zvi, S Yael, R Cohen, E Nachum, A Lipey, L Sternik, E Kachel, Y Kassif, A Shinfeld, D Spigelstein, J Lavee, E Raanani, A Livneh

Screening of free carnitine and acyl-carnitine status in patients with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

E Kiykim, K Barut, AC Aktuglu-Zeybek, T Zubarioglu, MS Cansever, A Aydin, O Kasapcopur

Featuring the phenotype of the FMF prototype

  • Open Access
  • Poster presentation

I Ben-Zvi, Y Kassel, O Kukuy, C Herskovizh, C Grossman, A Livneh

Neonatal onset Familial Mediterranean Fever

  • Open Access
  • Poster presentation

ZB Özçakar, S Şahin-Kunt, S Özdel, F Yalçınkaya

IL-18 serum concentration is continuously elevated in typical familial Mediterranean fever with M694I mutation and can distinguish atypical type

  • Open Access
  • Poster presentation

T Yamazaki, T Shigemura, N Kobayashi, K Honda, M Yazaki, J Masumoto, K Migita, M Tamura, K Agematsu

Compliance to colchicine treatment and disease activity in Familial Mediterranean Fever (FMF) patients in Middle/Black Sea Region of Turkey (in Çorum region)

  • Open Access
  • Poster presentation

Y Karaaslan, Į Dogan, A Omma, S Can Sandikci

How long is the diagnosis of Familial Mediterranean Fever (FMF) delayed in a region where FMF is common in Turkey?

  • Open Access
  • Poster presentation

Y Karaaslan, Į Dogan, A Omma, S Can Sandikci

Serum uric acid levels in patients with Familial Mediterranean Fever and healthy controls

  • Open Access
  • Poster presentation

B Bitik, S Unverdi, A Tufan, N Yesil, MA Ozturk, M Duranay

Familial Mediterranean Fever associated diseases in children

  • Open Access
  • Poster presentation

ZB Özçakar, N Cakar, N Uncu, B Acar Celikel, F Yalçınkaya

Musculoskeletal complaints in patients with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

ZB Özçakar, S Şahin-Kunt, S Özdel, F Yalçınkaya

Zytokin profiles in familial Mediterranean fever patients: IL-18 as a major cytokine and potential biomarker or target

  • Open Access
  • Poster presentation

A Igney-Oertel, J Henes, R Klein

Over representation of the A allele in the IL23R rs1004819 polymorphism in M694V homozygote non-responsive FMF patients

  • Open Access
  • Poster presentation

E Pras, S Dahan, A Epstein, I Ben Zvi, D Marek-Yagel, Y Shinar, M Lidar, A Livneh

Renal biopsy findings in children with FMF in Armenia: trends over the study period

  • Open Access
  • Poster presentation

M Papazyan, H Nazaryan, A Sanamyan, N Mkrtchyan, G Amaryan

Quality of life changes with canakinumab therapy in adults with colchicine resistant FMF

  • Open Access
  • Poster presentation

A Gul, H Özdogan, O Kasapcopur, B Erer, S Ugurlu, S Sevgi, S Turgay

Epidemiology of colchicine resistant Familial Mediterranean Fever disease (CrFMF) in Turkey

  • Open Access
  • Poster presentation

S Turgay, K Aksu, O Dokuyucu, A Ertenli, A Gul, Y Karaaslan, O Kasapcopur, S Kiraz, AM Onat, H Ozdogan, S Ozen, M Saylan, A Senturk, S Sevgi, S Sezen Cavusoglu, M Tatar, E Tuna, M Turanlı, F Yalcinkaya

Clinical and genetic peculiarities of vasculitis associated with Familial Mediterranean fever in Armenian children

  • Open Access
  • Poster presentation

G Amaryan, T Sarkisian, A Tadevosyan

Clinical and subclinical features and MEFV mutation distribution in of FMF patients’ siblings

  • Open Access
  • Poster presentation

Z Gunduz, B Sozeri, A Esen, A Pac Kısaarslan, H Kılıc, R Dusunsel, H Poyrazoglu, M Dundar, I Dursun

Arterial stiffness as a model to dissect chronic inflammation in FMF

  • Open Access
  • Poster presentation

O Kukuy, A Leiba, L Mendel, A Benor, E Giat, O Perski, O Feld, Y Kessel, I Ben Zvi, M Lidar, A Livneh

Prevalence of Mediterranean fever gene mutations in clinically suspected FMF patients in Algeria

  • Open Access
  • Poster presentation

D Ait-Idir, F Bouldjennet, R Taha, H El-Shanti, B Djerdjouri

Development of focal segmental glomerulosclerosis in a patient with Familial Mediterranean Fever resistant to colchicine therapy under treatment with Canakinumab

  • Open Access
  • Poster presentation

K Barut, N Canpolat, A Adrovic, R Cicek, AB Sinoplu, E Arslan, O Kasapcopur

Articular involvement in childhood Familial Mediterranean Fever

  • Open Access
  • Poster presentation

K Barut, AB Sinoplu, G Yucel, G Pamuk, A Adrovic, S Sahin, O Kasapcopur

Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

E Kiykim, AC Aktuglu-Zeybek, K Barut, T Zubarioglu, MS Cansever, A Aydin, O Kasapcopur

Could pentraxin-3 be a new marker for subclinical inflammation in familial Mediterranean fever?

  • Open Access
  • Poster presentation

S Yüksel, E Karadağlı, H Evrengül, H Şenol

Adrenomedullin levels in patients with Familial Mediterranean Fever: a long term follow-up

  • Open Access
  • Poster presentation

A Polat, C Saglam, YG Kurt, G Basbozkurt, B Sozeri, I Dursun, O Kasapcupur, H Peru, D Simsek, Z Gunduz, E Unsal, F Gok, S Ozen, E Demirkaya

Genotype -phenotype correlation of MEFV mutations in Eastern / Central European population

  • Open Access
  • Poster presentation

N Toplak, M Debeljak, T Avcin

L-ficolin and H-ficolin in patients with Familial Mediterranean fever

  • Open Access
  • Poster presentation

G Mkrtchyan, A Boyajyan

Coexistence of PFAPA syndrome and FMF in Armenian children

  • Open Access
  • Poster presentation

N Mkrtchyan, G Amaryan, T Sarkisian

Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV)

  • Open Access
  • Poster presentation

M Michelson, Chana Vinkler, Dorit Lev

Chronic recurrent multifocal osteomyelitis in a patient with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

A Daia, V Kini, RZ Taha, H El-Shanti, B Fathalla

Hidradenitis suppurativa and familial Mediterranean fever: a report of 6 cases and literature review

  • Open Access
  • Poster presentation

S Abbara, S Georgin-Lavialle, G Grateau, C Bachmeyer, D Buob, P Senet, S Audia, V Delcey, O Steichen, J-P Bastard, S Fellahi, S Amselem, K Stankovic Stojanovic

The portrait of Familial Mediterranean Fever in N. Greek pediatric patients: a 30-year experience

  • Open Access
  • Poster presentation

P Pratsidou-Gertsi, M Trachana, V Sgouropoulou, E Farmaki, V Tzimouli, G Pardalos, F Kanakoudi-Tsakalidou

The role of oxidative stress in determining prognosis in children with FMF and the relationship between markers of oxidative stress and gene mutation

  • Open Access
  • Poster presentation

O Eryavuz, R Dusunsel, I Dursun, K Köse, H Poyrazoglu, Z Gunduz, S Yel

The effect of Anakinra on Quality-of-Life in a family with colchicine-resistant FMF

  • Open Access
  • Poster presentation

J van der Hilst, A Lijnen

Developing of a new scale for assessing the adherence to colchicine treatment in pediatric patients with FMF

  • Open Access
  • Poster presentation

S Yesilkaya, C Acikel, BE Fidanci, B Sozeri, NA Ayaz, N Akıncı, S Kavukçu, G Özçelik, U Aydogan, S Ozenç, S Emre, O Donmez, A Delibaş, S Yüksel, A Berdelli, H Poyrazoğlu, M Saldır, N Çakar, H Peru, S Bakkaloğlu, Y Tabel, O Sarı, A Polat, G Basbozkurt, E Unsal, O Kasapcopur, F Gok, S Ozen, E Demirkaya

Anti-IL1 therapy in patients with refractory FMF living inGermany

  • Open Access
  • Poster presentation

B Buhl, H-M Lorenz, N Blank

Evaluation of familial mediterranean fever patients: a single center experience

  • Open Access
  • Poster presentation

P Gulez, N Gulez, B Sozeri, F Hazan

Validity and reliability of medication adherence scale in FMF

  • Open Access
  • Poster presentation

BE Fidanci, S Yesilkaya, C Acikel, A Ozden, D Simsek, F Yildiz, B Kisacik, M Sayarlioglu, S Akar, S Senel, M Tunca, S Yavuz, A Tufan, A Berdeli, AM Onat, A Gul, B Goker, T Kasifoglu, H Direskeneli, S Erten, G Ozcelik, F Gok, S Ozen, E Demirkaya

MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels

  • Open Access
  • Poster presentation

YZ Akkaya Ulum, B Balci Peynircioglu, ED Batu, C Guler, O Karadag, AI Ertenli, S Kiraz, S Ozen, E Yilmaz

Magnetic resonance imaging features of Familial Mediterranean Fever associated spondyloarthritis

  • Open Access
  • Poster presentation

A Turan, R Mercan, B Bitik, H Kucuk, MA Ozturk, A Tufan

Acute phase reactants in the follow-up of patients with FMF

  • Open Access
  • Poster presentation

ZS Arıcı, ED Batu, E Sönmez, Y Bilginer, R Topaloğlu, S Özen

Comorbidities in patients with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

B Balci-Peynircioğlu, ZS Arıcı, E Avcı, ED Batu, E Arslanoğlu, B Çağlarsu, O Karadağ, U Kalyoncu, Y Bilginer, A Düzova, E Yılmaz, S Özen

The effect of anti-inflammatory drugs on ASC gene level and cellular viability

  • Open Access
  • Poster presentation

B Balci Peynircioglu, YZ Akkaya Ulum, EZ Taskiran, M Arici, E Yilmaz

Colchicine measurement using LC-MS/MS with ESI in serum with liquid liquid extraction

  • Open Access
  • Poster presentation

H Gul, E Demirkaya, B Eser, H Kapucu, V Tuncbilek, D Simsek

Hypohidrotic ectodermal dysplasia and Familial Mediterranean Fever in a child with recurrent episodes of hyperthermia

  • Open Access
  • Poster presentation

L Guazzarotti, M Carrabba, S Beretta, M Zarantonello, I Sani, GV Zuccotti, G Fabio

Calprotectin (S100A8/A9) in Familial Mediterranean Fever

  • Open Access
  • Poster presentation

R Pepper, M Hutchinson, S Henderson, D Rowczenio, P Hawkins, H Lachmann

Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation

  • Open Access
  • Poster presentation

G Pinto-Patarroyo, D Kastner

Assessment of the pathogenicity of the p.K695R and p.A744S Mediterranean fever gene variants

  • Open Access
  • Poster presentation

Y Shinar, E Giat, R Cohen, A Livneh

Anakinra treatment in patients with Familial Mediterranean Fever: a single-center experience

  • Open Access
  • Poster presentation

S Ugurlu, B Ergezen, H Ozdogan

How safe it is to treat pregnant FMF patients with Anakinra?

  • Open Access
  • Poster presentation

H Ozdogan, S Ugurlu, B Ergezen

Identification of pyrin targets by CHiP-Seq

  • Open Access
  • Poster presentation

G Wood, Y Kanno, H Sun, G Gutierrez-Cruz, I Aksentijevich, D Kastner

Is Familial Mediterranean Fever a clinical diagnosis? Results of a field survey

  • Open Access
  • Poster presentation

H Ozdogan, S Ugurlu, G Hatemi, E Ozgun, G Can, G Ozgon, B Ergezen

MEFV gene mutation distrubution in Azerbaijan population

  • Open Access
  • Poster presentation

A Berdeli, G Mukhtarova, A Oz, S Musayev

Vasculitis associated with familial Mediterranean fever: a study on 16 french adult cases

  • Open Access
  • Poster presentation

S Abbara, O Fain, D Saadoun, C Bachmeyer, A Mekininan, K Stankovic Stojanovic, L Mouthon, L Gilardin, S Amselem, G Grateau, S Georgin-Lavialle

MEFV mutations - therapeutic guides or red herrings?

  • Open Access
  • Poster presentation

K Warrier, L Cliffe, L McDermott, S Rangaraj

Quality of life in children with familial Mediterranean fever

  • Open Access
  • Poster presentation

Ö Öztürk, S Yüksel, E Karadağlı, H Evrengül, B Özhan, M Tuğrul, O Kuzucu, E Uçar

Increased prevalence of attention deficit hyperactivity disorder in children with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

E Lavi, I Berger, E Eisenstein, Y Berkun

Challenging case of Familial Mediterranean Fever and its management

  • Open Access
  • Poster presentation

A Al Hosani, ES Sharif

Recommendations for the management of autoinflammatory diseases

  • Open Access
  • Poster presentation

N ter Haar, M Oswald, J Jeyaratnam, J Anton, K Barron, P Brogan, L Cantarini, C Galeotti, G Grateau, V Hentgen, M Hofer, T Kallinich, I Kone-Paut, H Lachmann, H Ozdogan, S Ozen, R Russo, A Simon, Y Uziel, C Wouters, B Feldman, B Vastert, N Wulffraat, S Benseler, J Frenkel, M Gattorno, J Kuemmerle-Deschner

Turkish Pediatric Rheumatology Society consensus statements on systemic onset juvenile idiopathic arthritis in Turkey

  • Open Access
  • Poster presentation

B Sozeri, N Aktay Ayaz, S Turgay, B Makay, E Demirkaya, E Unsal, O Kasapcopur, S Ozen

Anti-IL1ß-monoclonal antibody in two adult patients with PFAPA Syndrome - a single centre experience

  • Open Access
  • Poster presentation

B Kortus-Götze, J Hoyer

The analysis of inflammatory cell migration using primary neutrophils

  • Open Access
  • Poster presentation

E Avci, YZ Akkaya Ulum, E Yilmaz, B Balci-Peynircioglu

Comparison of the colchicine concentration between different matrix; plasma, leucocytes, ficoll solution measured by ESI LC-MS/MS

  • Open Access
  • Poster presentation

H Gul, E Demirkaya, B Eser, T Honca, FN Felek, D Simsek

Use of TNF inhibitors in the treatment of PAPA syndrome

  • Open Access
  • Poster presentation

D Stone, A Ombrello, A Almeida de Jesus, P Hoffmann, A Jones, R Goldbach-Mansky, K Barron, D Kastner

Underlying causes of persistently elevated acute phase reactants in patiens with Familial Mediterranean Fever

  • Open Access
  • Poster presentation

R Mercan, B Bitik, R Eren, B Dumludag, A Turan, H Kucuk, MA Ozturk, A Tufan

Mosaic tetrasomy 9p: a mendelian interferonopathy associated with pediatric-onset overlap myositis

  • Open Access
  • Poster presentation

M-L Frémond, C Gitiaux, D Bonnet, T Guiddir, Y Crow, L de Ponthual, B Bader-Meunier

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

  • Open Access
  • Poster presentation

H Girschick, C Wolf, H Morbach, C Hertzberg, MA Lee-Kirsch

Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center

  • Open Access
  • Poster presentation

S Volpi, E Santori, P Picco, G Rice, R Caorsi, A Martini, Y Crow, F Candotti, M Gattorno

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN

  • Open Access
  • Poster presentation

LO Mendonca, L Malle, FX Donavan, SC Chandrasekharappa, GA Montealegre, D Chapelle, D Suri, R Goldbach-Mansky, AA de Jesus

Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing

  • Open Access
  • Poster presentation

E Sanchez, S Grandemange, F Tran Mau-Them, P Louis-Plence, A Carbasse, E Jeziorski, M-C Picot, M Girard, TA Tran, B Isidor, S Poignant, S Tiriau, P Pillet, A-L Jurquet, I Touitou, D Geneviève

How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): preliminary results of the Eurofever Delphi survey

  • Open Access
  • Poster presentation

F Vanoni, S Federici, S Ozen, J Frenkel, H Lachmann, A Martini, N Ruperto, M Gattorno, M Hofer

How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey

  • Open Access
  • Poster presentation

S Federici, F Vanoni, S Ozen, J Frenkel, H Lachmann, A Martini, N Ruperto, M Hofer, M Gattorno

Anti-IL1ß-monoclonal antibody in a patient with Muckle-Wells Syndrome and renal transplantation - five years experience

  • Open Access
  • Poster presentation

B Kortus-Götze, J Hoyer

Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease

  • Open Access
  • Poster presentation

H Ida, Y Kunitake, N Yoshida, D Wakasugi, S Kaieda, K Mitsuyama, K Iwamoto, K Fujita, R Nishikomori

Anti-interleukin 1 treatment in secondary renal amyloidosis associated with autoinflammatory diseases

  • Open Access
  • Poster presentation

R Topaloglu, ED Batu, D Orhan, S Ozen, N Besbas

Neurological manifestations in autoinflammatory syndromes: a series of 131 patients from our neuroimmunology departement

  • Open Access
  • Poster presentation

E Schuh, P Lohse, J Havla, I Meinl, L-A Gerdes, R Hohlfeld, T Kümpfel

Refractory epilepsy responsive to nonspecific immunossupression: autoimmune or auto inflammatory disease? A case report and review of literature

  • Open Access
  • Poster presentation

CH Moreira, LO Mendonca, J Kalil, MT Barros, W Passarelli, CL Jorge, A Pontillo, LHM Castro

Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

  • Open Access
  • Poster presentation

R Nishikomori, T Kawai, K Toshiyuki, H Oda, T Yasumi, K Izawa, O Ohara, T Heike

Identification of three ADA2 deficiency families with novel CECR1 mutations

  • Open Access
  • Poster presentation

G Sarrabay, A Insalaco, F Uettwiller, N Tieulié, P Quartier-dit-maire, J Melki, I Touitou

Histological and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome

  • Open Access
  • Poster presentation

A Torrelo, I Colmenero, L Requena, A Paller, Y Ramot, C-CR Lee, A Vera, A Zlotogorski, R Goldbach-Mansky, H Kutzner

A case of corticosteroid-dependent recurrent pericarditis with different response to two IL-1 blocking agents

  • Open Access
  • Poster presentation

K Theodoropoulou, A von Scheven-Gête, S Bressieux-Degueldre, M Prsa, F Angelini, T Boulos, M Hofer

MAGIC- is it for real?

  • Open Access
  • Poster presentation

L Damian, M Velcherean, M Andrei, I Felea, P Vele, S Rednic

Distinct cerebrovascular features in patients with ADA2 deficiency

  • Open Access
  • Poster presentation

MS Severino, R Caorsi, C Gandolfo, C Martinetti, A Martini, M Gattorno

The familial Mediterranean fever (FMF) 50 score: does it work in a controlled clinical trial? Re-analysis of the trial of rilonacept for patients with colchicine resistant or intolerant FMF

  • Open Access
  • Poster presentation

P Hashkes, B Huang

Implementation of home measurement of CRP levels in diagnosis and monitoring of children with autoinflammatory diseases

  • Open Access
  • Poster presentation

B Wolska-Kuśnierz, B Mikołuć, E Bernatowska

Monogenic and multifactorial autoinflammatory diseases: Clinical and laboratory characterization in a pediatric Saudi population

  • Open Access
  • Poster presentation

S Al-Mayouf, A Alsonbul

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature

  • Open Access
  • Poster presentation

R Papa, P Nozza, C Granata, R Caorsi, M Gattorno, A Martini, P Picco

“Daily life of CAPS patients treated with canakinumab (Ilaris®) : data from the French observational study - ENVOL Study”

  • Open Access
  • Poster presentation

I Koné-Paut, P Quartier, O Fain, G Grateau, P Pillet, P Le Blay, F Bonnet, V Despert, K Stankovic, L Willemins, S Queré, O Reigneau, E Hachulla

Prevalence of polymorphisms of the genes responsible for auto-inflammatory diseases among 236 patients with recurrent fever in a rheumatology institute in Japan

  • Open Access
  • Poster presentation

T Miyamae, M Kawamoto, Y Kawaguchi, H Yamanaka

The case of Schnitzler syndrome in one single rheumatologic center

  • Open Access
  • Poster presentation

S Salugina, E Fedorov, V Gorodetskiy, M Evsikova, N Lopatina

Safety and efficacy of tocilizumab in children with systemic juvenile idiopathic arthritis

  • Open Access
  • Poster presentation

G Horneff, I Huppertz, P Haas, K Minden, G Ganser, A Hospach, R Trauzeddel

Development of anti-infliximab antibody is associated with reduced efficacy and infusion reaction in Behçet's disease with uveitis

  • Open Access
  • Poster presentation

Y Ishigatsubo, M Takeno, Y Kirino, N Mizuki

A decision tree based on procalcitonin and C-reactive protein levels as a potential diagnostic tool to distinguish PFAPA flares from acute bacterial and viral infections

  • Open Access
  • Poster presentation

B Kraszewska-Glomba, Z Szymanska-Toczek, L Szenborn

Cronic non-bacterial osteomyelitis (CNO) in a cohort of pediatric patients: clinical, biological and radiological response to treatment with Anakinra

  • Open Access
  • Poster presentation

M Pardeo, D Pires Marafon, V Messia, R Nicolai, C Bracaglia, F de Benedetti, A Insalaco

Temporal changes of serum cytokine/chemokine levels in patients of Nakajo-Nishimra syndrome treated with tocilizumab

  • Open Access
  • Poster presentation

N Kanazawa, Y Nakatani, Y Inaba, K Kunimoto, F Furukawa, F Ozaki

Behcet Disease in pediatric Argentinian patients

  • Open Access
  • Poster presentation

S Meiorin, C Vega, E Macias, T Gonzalez Vargas, G Espada

Recurrent Inflammatory Panniculitis with Partial Lipoatrophy and Elevated temperature: a possible new autoinflammatory disorder

  • Open Access
  • Poster presentation

A Torrelo, L Noguera-Morel, A Hernández-Martín, D Clemente, H Kutzner, JM Barja, A Almeida de Jesus, JC López-Robledillo, R Goldbach-Mansky, L Requena

Chronic recurrent multifocal osteomyelitis in N. Greece: disease burden in pediatric patients

  • Open Access
  • Poster presentation

M Trachana, P Pratsidou-Gertsi, E Papadimitriou, A Anastasiou, E Karatza, G Pardalos, E Roilides

Canakinumab treat-to target strategies increase complete response rate in CAPS

  • Open Access
  • Poster presentation

J Kuemmerle-Deschner, F Hofer, T Endres, B Kortus-Goetze, N Blank, E Weißbarth-Riedel, C Schuetz, T Kallinich, K Krause, C Rietschel, G Horneff, SM Benseler

Determinants of health-related quality of life in children and adults with autoinflammatory diseases

  • Open Access
  • Poster presentation

G Erbis, T Sergiichuk, SM Benseler, S Hansmann, J Kuemmerle-Deschner

Unmet psychosocial needs in CAPS

  • Open Access
  • Poster presentation

G Erbis, T Sergiichuk, S Hansmann, I Haug, SM Benseler, J Kuemmerle-Deschner

Adult PFAPA - a single centre experience

  • Open Access
  • Poster presentation

O Donnelly, T Youngstein, R Pepper, D Rowczenio, P Hawkins, H Lachmann

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

  • Open Access
  • Poster presentation

F Awad, S Georgin-Lavialle, A Brignier, C Derrieux, A Aouba, K Stankovic Stojanovic, G Grateau, S Amselem, S-A Karabina

Juvenile chronic non-bacterial osteomyelitis (CNO): Long term course of disease and response to treatment in a large institutional cohort

  • Open Access
  • Poster presentation

T Schwarz, S Petzke, H Morbach, C Hofmann, M Beer, P Raab, HJ Girschick

Pediatric chronic non-bacterial osteomyelitis in Goteborg, Sweden

  • Open Access
  • Poster presentation

S Berg, P Wekell, S Óskarsdóttir, J Martinell, R Rupröder, E Fridh, A Karlsson, T Backteman, A Fasth

Turkish DIRA patient with novel IL1RN gene mutation

  • Open Access
  • Poster presentation

A Berdeli, B Sözeri, B Gerceker Türk, A Oz, S Mir

The Eurofever Project: towards the longitudinal stage

  • Open Access
  • Poster presentation

S Federici, J Frenkel, S Ozen, M Finetti, F Garibotto, H Lachmann, A Martini, N Ruperto

A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome

  • Open Access
  • Poster presentation

N Kinjo, N Kanazawa, H Mishima, A Kinoshita, K Yoshiura

Chronic non-infectious osteitis: single centre case series

  • Open Access
  • Poster presentation

P Dawson, N Hill, M Roderick, A Finn, R Athimalaipet

Cost-effectiveness analysis and prevention effects of ultra-orphan drugs for rare diseases: an in silico model applied to Cryopyrin Associated Periodic Syndromes (CAPS)

  • Open Access
  • Poster presentation

L Trieste, O Della Casa Alberighi, G Turchetti, F Pierotti, L Accame, V Lorenzoni, J Frenkel, M Gattorno, P Quartier, A Martini

The RaDiCEA Project: cost of illness (COI) analysis applied to Cryopyrin Associated Periodic Syndromes (CAPS)

  • Open Access
  • Poster presentation

O Della Casa Alberighi, L Trieste, L Accame, V Lorenzoni, F Pierotti, S Federici, M Gattorno, P Quartier, P Duong Ngoc, N Cabrera Rojas, A Martini, G Turchetti

Studying patients with autoinflammatory diseases: the past, present, and a perspective for the future

  • Open Access
  • Poster presentation

JS Hausmann, C Biggs, D Goldsmith, F Dedeoglu

Chronic recurrent multifocal osteomyelitis: follow up Longitudinal case series study for five years with radiographic and scintigraphic imaging perspective and health outcome analysis with EQ5D-5L

  • Open Access
  • Poster presentation

N Roy, S Sathyanandan, K Lalitha, M Mathew

Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined genetic cause

  • Open Access
  • Poster presentation

S Harrison, S Nizam, M McDermot, D McGonagle, S Savic

Choosing the right treatment for patients with a severe course of chronic non-bacterial osteomyelitis (CNO) - pamidronate or TNF-α blockade?

  • Open Access
  • Poster presentation

H Morbach, A Schnabel, N Bruck, A Holl-Wieden, H Girschick, C Hedrich

MPO deficiency confers impaired processing of neutrophil reactive oxygen species in a patient with severe CRMO

  • Open Access
  • Poster presentation

S Berg, H Björnsdottir, M Sundqvist, P Wekell, K Christenson, V Osla, A Welin, J Bylund, A Karlsson

Periodic fevers associated with celiac disease and marked increase of NK cells

  • Open Access
  • Poster presentation

A Sediva

Successful kidney transplantation during anakinra treatment without complications

  • Open Access
  • Poster presentation

C Mulders-Manders, F Molenaar, M Baas, A Simon

Diet and diet combined with chronic aerobic exercise decreases body fat mass and alters plasma and adipose tissue inflammatory markers in obese women

  • Open Access
  • Poster presentation

N Lakhdar, M Denguezli, M Zaouali, A Zbidi, Z Tabka, A Bouassida

Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology

  • Open Access
  • Poster presentation

K Nakagawa, Y Okuno, R Nishikomori, K Yokoyama, T Tanaka, T Kawai, T Yasumi, K Umeda, N Nakayama, J Toguchida, M Hagiwara, T Heike

Immune dysregulation in Periodic Fever, Aphthous atomatitis, Pharyngitis, Adenitis (PFAPA) syndrome

  • Open Access
  • Poster presentation

L Broderick, D Carvalho, A Magit, W Jiang, S Leuin, M Bothwell, D Kearns, S Pransky, H Hoffman

Interleukin-1-related cytokines as potential biomarkers in autoinflammatory skin diseases

  • Open Access
  • Poster presentation

H Bonnekoh, M Maurer, K Krause

PFAPA syndrome as an hereditary autoinflamatory disorder

  • Open Access
  • Poster presentation

C Kadhim, F Maiolini, L Cerrito, LL Sicignano, M Giovinale, E Verrecchia, F Gurrieri, M Genuardi, R Manna

Beneficial effect of methotrexate on a case of Nakajo-Nishimura syndrome

  • Open Access
  • Poster presentation

K Kunimoto, F Ozaki, F Furukawa, N Kanazawa

Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.

  • Open Access
  • Poster presentation

A Bertoni, S Carta, E Balza, P Catellani, C Pellecchia, F Penco, F Schena, S Borghini, ML Trotta, C Pastorino, I Ceccherini, A Martini, A Rubartelli, M Gattorno, S Chiesa

Differential response to anakinra and adalimumab in a patient with DADA2 syndrome

  • Open Access
  • Poster presentation

B Toz, B Erer, S Kamali, L Ocal, A Gul

Clinical experiences with canakinumab as a treatment for autoinflammatory disorders

  • Open Access
  • Poster presentation

C Saperia, P McAuley, J Raffaghello, S Fazlul Haque, G Sussman

Comparison of different treatment approaches in chronic non-bacterial osteomyelitis.

  • Open Access
  • Poster presentation

M Kostik, I Chikova, V Masalova, M Dubko, L Snegireva, E Isupova, O Kalashnikova, V Avramenko, A Denisov, D Vorypin, D Philippov, S Peredereev, D Malamashin, A Pershin, E Malyarova, M Bakin, V Evseev, A Mushkin, V Chasnyk

Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS)

  • Open Access
  • Poster presentation

J Brunnner, E Binder, D Karall, J Zschocke, C Fauth

Long-term efficacy of IL-1 blockers in PAPA patients

  • Open Access
  • Poster presentation

M Finetti, R Caorsi, D Marotto, A Buoncompagni, A Omenetti, B Lattanzi, F Minoia, P Picco, M Jorini, A Martini, M Gattorno

Differential diagnosis of CRMO

  • Open Access
  • Poster presentation

A Kozlova, V Roshchin, D Abramov, N Bolshakov, A Roppelt, D Yuhacheva, A Shcherbina

Safe and effective canakinumab-treatment of neonatal onset multisystem inflammatory disease (NOMID)/ chronic infantile neurologic cutaneous and articular (CINCA)

  • Open Access
  • Poster presentation

M Tsinti, V Dermentzoglou, E Tsitsami

Our experience of anti-interleukin 1 therapy

  • Open Access
  • Poster presentation

N Gulez, B Sozeri, P Gulez

CIAS1-associated autoinflammatory syndrome first diagnosed at age 48 years: a case report

  • Open Access
  • Poster presentation

M Fasshauer, S Borte, A Hauenherm, E Braun, H Reichenbach, M Borte

Dez. 15
Ausgabe: 1/2015
Juli 16
Ausgabe: Sonderheft 1/2016
Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting

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KI-Chatbots bieten 24/7-Sprechstunde für Patienten

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Die Leitlinien für Ärztinnen und Ärzte, Vater recherchiert am Smartphone/© Elnur / stock.adobe.com (Symbolbild mit Fotomodell), Tastuntersuchung bei Kind/© Maria / stock.adobe.com (Symbolbild mit Fotomodell)