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Pediatric Rheumatology

Ausgabe Sonderheft 1/2013 7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Inhalt (269 Artikel)

OR2-001 – The possible role of pyrin on cell migration

  • Open Access
  • Meeting abstract

B Peynircioğlu, ZY Akkaya, C Guler, A Cetinkaya, ZE Taskiran, E Yilmaz

OR2-002 – The risk of FMF in MEFV heterozygotes

  • Open Access
  • Meeting abstract

I Jéru, V Hentgen, E Cochet, P Duquesnoy, G Le Borgne, E Grimprel, K Stankovic Stojanovic, S Karabina, G Grateau, S Amselem

OR3-001 – RIP2 kinase is activated in Blau Syndrome and IBD

  • Open Access
  • Meeting abstract

KP Foley, B Desai, A Vossenkämper, MA Reilly, P Biancheri, L Wang, DB Lipshutz, J Connor, M Miller, PA Haile, LN Casillas, BJ Votta, PJ Gough, TT MacDonald, CH Wouters, CD Rosé, J Bertin

OR3-002 – Blau Syndrome cohort study: ocular outcome

  • Open Access
  • Meeting abstract

CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira Knupp, F Mackenson, J Arostegui, J Anton Lopez, J Fernandez-Martin, C Wouters

P01-001 – Musculoskeletal sonography in FMF patients

  • Open Access
  • Meeting abstract

O Karadag, S Yilmaz, V Yazisiz, M Cinar, H Erdem, S Pay, A Dinc

P01-002 – Comparison between different colchicines responders

  • Open Access
  • Meeting abstract

ZB Özçakar, AH Elhan, F Yalcinkaya

P01-003 – Bleeding disorder in FMF

  • Open Access
  • Meeting abstract

O Karadag, T Akin Telli, N Sayinalp, I Ertenli

P01-004 – MEFV genes and FMF

  • Open Access
  • Meeting abstract

F Salehzadeh, M Jafariasl, S Jahangiri, S Hosseiniasl

P01-005 – Idiopathic uveitis and FMF

  • Open Access
  • Meeting abstract

F Salehzadeh, O Yasrebi, S Jahangiri, S Hosseiniasl

P01-006 – MEFV mutation detection in Arabic patients

  • Open Access
  • Meeting abstract

R Taha, S Ayesh, M Kambouris, H El-Shanti

P01-007 – Evaluation of potential risk factors of Amyloidosis

  • Open Access
  • Meeting abstract

T Kasifoglu, S Bilge, E Gonullu, F Bekdemir, C Korkmaz

P01-008 – FMF genotype-phenotype correlations in Germany

  • Open Access
  • Meeting abstract

M Jeske, P Lohse, T Kallinich, T Berger, C Rietschel, D Holzinger, C Kamlah, P Lankisch, R Berendes, G Dückers, G Horneff, E Lilienthal, JP Haas, A Giese, F Dressler, J Berrang, C Pütter, L Braunewell, U Neudorf, T Niehues, E Lainka

P01-009 – 2 years of colchicine IV in intractable FMF

  • Open Access
  • Meeting abstract

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

P01-010 – Anti-TNF agents in intractable FMF: four cases

  • Open Access
  • Meeting abstract

L Kaly, D Rimar, G Slobodin, N Jiries, I Rosner, M Rozenbaum

P01-011 – Colchicine compliance and amyloidosis

  • Open Access
  • Meeting abstract

H Ozdogan, S Ugurlu, G Hatemi

P01-012 – Evaluation of autonomic function in FMF

  • Open Access
  • Meeting abstract

N Aktay Ayaz, N Melikoğlu Kiplapinar, G Keskindemirci, G Aydogan, O Isal Tosun, A Guzeltas, E Odemis

P01-013 – Cochlear involvement in FMF

  • Open Access
  • Meeting abstract

N Aktay Ayaz, G Keskindemirci, A Batıoglu, G Aydogan, E Aldemir, Z Donmez, O Yigit, A Akçay, S Ozen

P01-014 – Subclinical atherosclerosis in FMF

  • Open Access
  • Meeting abstract

S Ugurlu, SN Karaca, Y Demirel, E Seyahi

P01-015 – Effect of Cochicine on cholesterol in FMF and BS

  • Open Access
  • Meeting abstract

S Ugurlu, E Seyahi, I Hanci, SM Pehlevan, H Ozdogan, H Yazici

P01-016 – Decreased vitamin D levels in FMF patients

  • Open Access
  • Meeting abstract

H Onur, H Aral, V Arıca, G Bercem, M Usta, Ö Kasapçopur

P01-017 – FMF presention with features of malignancy

  • Open Access
  • Meeting abstract

N Aktay Ayaz, G Keskindemirci, D Tugcu, A Akçay, E Aldemir, G Aydogan

P01-018 – An earliest diagnosis of FMF

  • Open Access
  • Meeting abstract

N Aktay Ayaz, E Aldemir, G Keskindemirci, C Aydogmus, G Aydogan, S Kavuncuoglu

P01-019 – Anti-CCP antibodies are not associated with FMF

  • Open Access
  • Meeting abstract

H Onur, H Aral, V Arıca, G Bercem, M Usta, Ö Kasapçopur

P01-020 – Starting time of inflammatory attacks in patients

  • Open Access
  • Meeting abstract

F Berktaş, N Alpay, B Toz, OK Bakkaloğlu, B Erer, A Gül

P01-021 – Macrophage migration inhibitory factory in FMF

  • Open Access
  • Meeting abstract

I Sari, Y Savran, DL Kozaci, N Gunay, F Onen, S Akar

P01-022 – MEFV gene mutations registered to infevers

  • Open Access
  • Meeting abstract

A Berdeli, S Nalbantoglu, D Tigli, I Demirel, M Atan

P01-024 – Vascular risk assessment and MMP-3 gene in FMF

  • Open Access
  • Meeting abstract

S Mir, B Sozeri, K Ozdemir, A Berdeli

P01-025 – Decreased vitamin D levels in children with FMF

  • Open Access
  • Meeting abstract

B Makay, A Anık, G Çatlı, A Abacı, T Küme, E Böber, E Ünsal

P01-026 – A case of FMF and hereditary coproporphyria

  • Open Access
  • Meeting abstract

A Ganesha, S Savic

P01-027 – Normal HRV in colchicine-resistant FMF patients

  • Open Access
  • Meeting abstract

U Nussinovitch, A Livneh

P01-028 – MEFV mutation in Morrocan child wuth familial Mediterranean fever

  • Open Access
  • Meeting abstract

B Chkirate, A Dibi, A Bentahila

P01-029 – Microscopic hematuria in FMF

  • Open Access
  • Meeting abstract

L Grabowitz, OL Kukuy, M Lidar, I Ben Zvi, O Feld, Y Kesel, A Livneh

P01-030 – Proteinuria in FMF – prediction of nephropathy type

  • Open Access
  • Meeting abstract

OL Kukuy, A Livneh, A Ben-David, J Kopolovic, A Volkov, Y Shinar, E Holtzman, D Dinour, I Ben-Zvi

P01-031 – Anakinra for colchicine resistant FMF

  • Open Access
  • Meeting abstract

I Ben-Zvi, OL Kukuy, M Lidar, O Feld, O Perski, S Kivity, P Langevitz, B Pistrom, A Livneh

P01-032 – Characterization of genetic-negative FMF

  • Open Access
  • Meeting abstract

I Ben-Zvi, C Herskovizh, Y Kassel, A Livneh

P01-033 – Co-occurance of Crohn’s disease and FMF

  • Open Access
  • Meeting abstract

A Epstein, I Ben-Zvi, Y Shinar, M Lidar, S Ben-Horin, A Livneh

P01-034 – Cancer in FMF: a population based study Israel

  • Open Access
  • Meeting abstract

R Brenner, S Kivity, Y Shinar, I liphshitz, E Ben-Chetrit, A Livneh, B Zvi

P01-035 – Long-term IV colchicine in oral colchicines failure

  • Open Access
  • Meeting abstract

O Feld, I Ben Zvi, OL Kukuy, A Livneh

P01-036 – Systemic amyloidosis presenting with amyloidoma

  • Open Access
  • Meeting abstract

H Nalcacioglu, G Genc, S Ayyildiz, M Kefeli, O Aydin, M Elli, M Ceyhan, O Ozkaya

P01-037 – Genetic analysis practice prior to FMF diagnosis

  • Open Access
  • Meeting abstract

Y Shinar, Y Berkun, A Livneh, S Padeh

P01-038 – QT and JT dispersion in children with FMF

  • Open Access
  • Meeting abstract

K Fidanci, A Kilic, M Gulgun, C Acikel, G Basbozkurt, E Demirkaya, F Gok

P01-039 – Autonomic functions in children with FMF

  • Open Access
  • Meeting abstract

K Fidanci, M Gulgun, A Kilic, C Acikel, E Demirkaya, S Ozen, F Gok

P01-041 – Patient management and rare FMF symptoms

  • Open Access
  • Meeting abstract

MM Moradian, H Hayrapetyan, G Amaryan, A Yeghiazaryan, T Sarkisian

P01-042 – Joint involvement in Armenian children with FMF

  • Open Access
  • Meeting abstract

G Amaryan, G Khloyan, R Davtyan, T Sarkissian, A Tadevosyan

P01-043 – Comparative characteristic of FMF and FMF with HSP

  • Open Access
  • Meeting abstract

H Sargsyan, P Ghazaryan

P01-044 – Uncommon manifestations of familial Mediterranean

  • Open Access
  • Meeting abstract

A Beglaryan, K Ginosyan, A Ayvazyan

P01-045 – Epilepsy in Armenian children with FMF

  • Open Access
  • Meeting abstract

N Mkrtchyan, G Amaryan, N Aghababyan, K Mirzabekyan, T Sarkissian

P01-046 – Membrane aspects of Hemostasis disorders at ATYPIC

  • Open Access
  • Meeting abstract

P Ghazaryan, A Zakharyan, N Mkrtchyan

P01-047 – PH with right-sided heart failure in FMF

  • Open Access
  • Meeting abstract

AV Sargsyan, MZ Narimanyan

P01-048 – Systemic onset JIA with coronary artery dilation

  • Open Access
  • Meeting abstract

N Aktay Ayaz, G Keskindemirci, E Aldemir, N Melikoğlu Kiplapinar, G Aydogan

P01-049 – Assessment of vascular function in systemic JIA

  • Open Access
  • Meeting abstract

B Sozeri, K Ozdemir, S Mir

P01-050 – Anakinra in systemic JIA: single center experience

  • Open Access
  • Meeting abstract

M Pardeo, A Insalaco, C Bracaglia, R Nicolai, AE Tozzi, G Prencipe, F De Benedetti

PW01-001 – Pyrin-PSTPIP1 relation during cell migration

  • Open Access
  • Meeting abstract

ZY Akkaya, B Balci-Peynircioglu, A Cetinkaya, N Purali, E Yilmaz

PW01-002 – Colchicine resistant FMF in Turkish children

  • Open Access
  • Meeting abstract

FK Kara Eroglu, Y Bilginer, F Ozaltin, R Topaloglu, S Ozen

PW01-003 – Frequency of MEFV mutations in Turkish population

  • Open Access
  • Meeting abstract

F Yalcinkaya, A Duzova, S Gonen, B Ozcakar, E Baskin, O Ozkaya, O Soylemezoglu

PW01-004 – The sequence analysis in E148Q homozygous patients

  • Open Access
  • Meeting abstract

R Topaloglu, C Yildiz, E Taskiran, E Korkmaz, N Besbas, S Ozen, A Duzova, N Akarsu, F Ozaltin

PW01-005 – Effects of placebo and colchicine on FMF patients

  • Open Access
  • Meeting abstract

F Özaltın, Y Bilginer, B Gülhan, I Bajin, Ö Erdoğan, S Özen

PW01-006 – The effect of colchicine on physical growth in FMF

  • Open Access
  • Meeting abstract

N Cakar, TC Yoldas, B Acar, N Uncu, S Cayci

PW01-007 – Colchicine brand switching in FMF patients

  • Open Access
  • Meeting abstract

J Jagger, J McGonagle

PW01-008 – The inflammasome and secretory pathways in FMF

  • Open Access
  • Meeting abstract

B Orak, T Kallinich, M Lieber, H von Bernuth, H Wittkowski, D Foell

PW01-009 – Markers of inflammation in adult FMF patients

  • Open Access
  • Meeting abstract

A Giese, H Wittkowski, A Örnek, M Kurucay, E Lainka, BF Henning

PW01-010 – The effect of pregnancy on disease course in FMF

  • Open Access
  • Meeting abstract

T Eviatar, N Zaks, OL Kukuy, A Livneh, M Lidar

PW01-011 – Exertional leg pain and spondyloarthropathy on FMF

  • Open Access
  • Meeting abstract

Y Rosman, I Eshed, A Livneh, M Lidar

PW01-012 – Canakinumab in patients with FMF

  • Open Access
  • Meeting abstract

S Ugurlu, E Seyahi, G Hatemi, A Hacioglu, H Ozdogan

PW01-013 – Localization of alternative pyrin isoforms

  • Open Access
  • Meeting abstract

E Tahir Turanli, S Erdemir, G Celikyapi Erdem

PW01-014 – MEFV methylation analysis in FMF and JRA diseases

  • Open Access
  • Meeting abstract

E Tahir Turanli, AK Kirectepe, Ö Kasapçopur

PW01-015 – Canakinumab in adults with colchicin resistant FMF

  • Open Access
  • Meeting abstract

A Gül, H Özdoğan, Ö Kasapçopur, B Erer, S Uğurlu, N Davis, S Sevgi

PW01-016 – Are different disease subtypes present in FMF

  • Open Access
  • Meeting abstract

S Akar, T Kasifoglu, D Solmaz, S Bilge, I Sari, M Tunca

PW01-017 – Urine MMP-3 level as a biomarker for in FMF attack

  • Open Access
  • Meeting abstract

B Sozeri, N Dincel, E Yilmaz, S Mir

PW01-018 – Circulating endothelial biomarkers in FMF

  • Open Access
  • Meeting abstract

I Sari, BO Pamuk, S Selcuk, G Gokce, DL Kozaci

PW01-019 – MEFV gene mutations in 53 periodic fever patients

  • Open Access
  • Meeting abstract

N Toplak, M Debeljak, T Avcin

PW01-020 – MEFV mutations carrier rate in Central Europe

  • Open Access
  • Meeting abstract

M Debeljak, N Toplak, N Abazi, M Kolnik, B Szabados, V Mulaosmanovic, J Radović, J Vojnović, T Constantin, D Kuzmanovska, T Avčin

PW01-021 – The phenotype of FMF due to deletion M694

  • Open Access
  • Meeting abstract

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

PW01-022 – Dissociation between CRP and SAA in FMF

  • Open Access
  • Meeting abstract

K Stankovic Stojanovic, V Hentgen, S Georgin-Lavialle, S Fellahi, I Jeru, S Amselem, J-P Bastard, G Grateau

PW01-023 – Ex vivo PBMC cytokine profile in FMF patients

  • Open Access
  • Meeting abstract

JN Ibrahim, R Jounblat, A Delwail, J Abou-Ghoch, N Salem, E Chouery, A Megarbane, J-C Lecron, M Medlej-Hashim

PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort

  • Open Access
  • Meeting abstract

A Soriano, D Rigante, L Cerrito, C Fonnesu, L Sicignano, A Gallegos, R Manna

PW01-025 – Definition of colchicine resistance in FMF

  • Open Access
  • Meeting abstract

E Demirkaya, C Acikel, A Tufan, A Kucuk, A Berdeli, A Gul, AM Onat, A Delibas, A Duzova, A Dinc, O Yavascan, O Kasapcopur, B Makay, B Goker, B Sozeri, B Kisacik, E Comak, E Unsal, E Erken, E Gunal, E Baskin, F Yalcinkaya, F Yildiz, F Gok, G Basbozkurt, G Ozcelik, G Demircin, H Poyrazoglu, H Erdem, H Direskeneli, H Ozer, H Ozdogan, I Simsek, I Dursun, I Gokce, M Tunca, M Gurgoze, N Cakar, N Akinci, N Ayaz, O Donmez, O Ozkaya, R Topaloglu, S Kavukcu, S Yuksel, S Akar, S Bakkaloglu, S Emre, S Senel, S Erten, S Yavuz, S Kalman, T Kasifoglu, U Kalyoncu, Y Tabel, Z Ekinci, S Ozen

PW01-026 – Validation of pediatric diagnostic criteria in FMF

  • Open Access
  • Meeting abstract

E Demirkaya, S Ozen, C Saglam, T Turker, A Duzova, P Woo, I Konè-Paut, M Doglio, G Amaryan, J Frenkel, Y Uziel, A Insalaco, L Cantarini, M Hofer, S Boiu, C Modesto, A Bryant, D Rigante, E Papadopoulou-Alataki, S Guillaume-Czitrom, N Ruperto, M Gattorno

PW01-027 – Predictors and survival of FMF related amyloidosis

  • Open Access
  • Meeting abstract

E Demirkaya, I Yilmaz, C Acikel, M Saglam, H Unal, M Gok, A Polat, H Cetinkaya, T Eyileten, S Sari, AO Yildirim, Y Oguz, A Vural, JJ Carrero

PW01-028 – Developing a new severity score for FMF

  • Open Access
  • Meeting abstract

E Demirkaya, C Acikel, A Gul, M Gattorno, E Ben-Chetrit, H Ozdogan, P Hashkes, A Polat, O Karadag, A Livneh, S Ozen

PW01-030 – Pulmonary manifestations of FMF

  • Open Access
  • Meeting abstract

AV Sargsyan, AR Davtyan, YS Sargsyan

PW01-031 – Treatment of FMF in middle and old age

  • Open Access
  • Meeting abstract

A Ayvazyan

PW01-032 – FMF-like state: genetic factors unrelated to MEFV

  • Open Access
  • Meeting abstract

D Babikyan, I Jeru, B Copin, H Hayrapetyan, S Amselem, T Sarkisian

PW01-033 – Phenotype – genotype in Armenian children with FMF

  • Open Access
  • Meeting abstract

G Amaryan, T Sarkissian, T Sarkissian, H Hayrapetyan, H Hayrapetyan, A Tadevosyan, A Tadevosyan

PW01-034 – Clinical-genetic investigation of FMF in Armenia

  • Open Access
  • Meeting abstract

H Hayrapetyan, G Amaryan, A Yeghiazaryan, T Sarkisian

PW01-035 – Mutations in PB30.2D and complexing with caspase-1

  • Open Access
  • Meeting abstract

K Nazaryan, G Arakelov

PW01-036 – Renal replacement therapy in patients with FMF

  • Open Access
  • Meeting abstract

M Papazyan, M Voskanyan, H Nazaryan, S Babloyan, A Sarkissian

PW01-037 – Amyloidosis probability depending on MEFV type

  • Open Access
  • Meeting abstract

A Simonyan, A Ayvazyan, V Vardanyan, L Kozlovskaya, V Rameev

PW01-038 – Genomewide association study of Still’s disease

  • Open Access
  • Meeting abstract

MJ Ombrello, EF Remmers, E Zeggini, W Thomson, DL Kastner, P Woo

PW01-039 – Long-term efficacy of anakinra in SoJIA patients

  • Open Access
  • Meeting abstract

A Naselli, J Tibaldi, A Accogli, A Buoncompagni, S Viola, S Signa, P Picco, A Ravelli, A Martini, M Gattorno

PW01-040 – Definition of polymorphism C3435T MDR1 gene in JIA

  • Open Access
  • Meeting abstract

F Rokhlina, G Novik

OR5-001 – Characterization of tonsil infiltration in PFAPA

  • Open Access
  • Meeting abstract

S Chiesa, R Caorsi, F Penco, A Bertoni, S Borghini, A Sementa, A Omenetti, F Bellora, R D'Agostino, A Martini, M Gattorno

OR5-002 – In vitro studies in Schnitzler’s syndrome

  • Open Access
  • Meeting abstract

HD De Koning, J Schalkwijk, J Jongekrijg, IM van Vlijmen-Willems, D Rodijk-Olthuis, M Stoffels, JW van der Meer, PL Zeeuwen, A Simon

OR6-001 - S100A12 as pro-inflammatory TLR4 ligand

  • Open Access
  • Meeting abstract

C Kessel, H Wittkowski, A Lüken, T Weinhage, G Varga, T Vogl, T Wirth, D Viemann, P Björk, M van Zoelen, F Gohar, G Srikrishna, J Roth, D Foell

OR6-002 – Thromboembolism in autoinflammatory syndromes

  • Open Access
  • Meeting abstract

PM Vaitla, R Weldon, I Tynan, EM McDermott, E Drewe

OR6-003 – Prospective evaluation of PFAPA patients

  • Open Access
  • Meeting abstract

I Bosio, A Meini, P Cancarini, M Berlucchi, G Savoldi, M Cattalini

OR6-004 – MRP8/14 promote MSU-crystal induced inflammation

  • Open Access
  • Meeting abstract

D Holzinger, N Nippe, T Vogl, K Marketon, V Mysore, T Weinhage, N Dalbeth, B Pool, T Merriman, D Baeten, A Ives, N Bagnoud, N Busso, D Foell, S Bas, C Gabay, J Roth

OR6-005 – Cystine crystals activate inflammasomes

  • Open Access
  • Meeting abstract

G Prencipe, I Caiello, S Petrini, L Bracci Laudiero, F Emma, F De Benedetti

OR6-006 – IL36RN alleles in skin auto-inflammation

  • Open Access
  • Meeting abstract

F Capon, N Setta-Kaffetzi, D Berki, S Mahil, A Navarini, VM Patel, C Siew-Eng, AD Burden, C Griffiths, M Seyger, R Trembath, C Smith, J Barker

OR7-001 – By chip pyrin binds the IRF2 promoter

  • Open Access
  • Meeting abstract

G Wood, Y Kanno, J Balow Jr, H-W Sun, I Aksentijevich, DL Kastner

OR7-002 – Pyrin 577 mutations in dominant autoinflammation

  • Open Access
  • Meeting abstract

M Stoffels, A Szperl, A Simon, MG Netea, TS Plantinga, M van Deuren, S Kamphuis, H Lachmann, E Cuppen, WP Kloosterman, J Frenkel, CC van Diemen, C Wijmenga, M van Gijn, JW van der Meer

OR7-003 – MEFV genotype, IL1B and role of NLRP3 in FMF

  • Open Access
  • Meeting abstract

A Omenetti, S Carta, L Delfino, A Martini, M Gattorno, A Rubartelli

OR7-004 – Validation of AIDAI score

  • Open Access
  • Meeting abstract

M Piram, I Koné-Paut, M Gattorno, N Ruperto

OR7-005 – Canakinumab in childhood colchicine resistant FMF

  • Open Access
  • Meeting abstract

PJ Hashkes, Y Butbul Aviel, S Lubin, L Tseng, E Ben Dayan, T Rachmilewitz, R Brik

OR7-006 – Autophagy as a player in inflammation in TRAPS

  • Open Access
  • Meeting abstract

T Bachetti, S Chiesa, P Castagnola, D Bani, E Di Zanni, A Omenetti, A D'Osualdo, A Fraldi, A Ballabio, R Ravazzolo, A Martini, M Gattorno, I Ceccherini

P02-001 – A novel TNFRSF1A mutation in periodic fever

  • Open Access
  • Meeting abstract

E Erken, F Yıldız, D Arslan Taş, S Dinkci

P02-002 - IL36RN mutations in patients with DITRA

  • Open Access
  • Meeting abstract

JI Arostegui, MA Vicente-Villa, A Chaves, E Gonzalez-Roca, E Ruiz-Ortiz, J Rius, S Plaza, MA Gonzalez-Enseñat, J Yague

P02-003 - HIDS in a consanguineous family form Saudi Arabia?

  • Open Access
  • Meeting abstract

Q Zhou, R Sleiman, DL Kastner, I Aksentijevich

P02-004 - AIDs in a registry of children in North America

  • Open Access
  • Meeting abstract

JS Hausmann, CM Biggs, D Goldsmith, F Dedeoglu

P02-005 - Overlap of FMF and HIDS in one Arabic family

  • Open Access
  • Meeting abstract

T Moussa, B Aladbe, A Aly, R Taha, H El-Shanti, B Fathalla

P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

  • Open Access
  • Meeting abstract

B Fathalla, M Al-Mutawa, F Al-Amri, S Al-Dosari, M Kambouris, H El-Shanti

P02-007 - Childhood autoinflammatory disorders in Qatar

  • Open Access
  • Meeting abstract

B Aladbe, A Aly, R Taha, H Elshanti, T Moussa, F Al Amry, B Fathalla

P02-008 - Dramatic response to canakinumab in MKD

  • Open Access
  • Meeting abstract

B Makay, E Ünsal

P02-009 - Candle syndrome: expanding spectrum

  • Open Access
  • Meeting abstract

I Kone-Paut, A Kinoshita, H Ida, D Roybet, C Leaute-Labreze, P Pillet

P02-010 - A novel 24 nucleotide deletion in the TNFRSF1A

  • Open Access
  • Meeting abstract

DM Rowczenio, H Trojer, G Wang, PN Hawkins, HJ Lachmann, NM Stewart

P02-011 - TRAPS syndrome debuted as systemic JIA

  • Open Access
  • Meeting abstract

T Sleptsova, E Alexeeva, E Mitenko, S Valieva, T Bzarova, R Denisova, K Isaeva

P02-012 - HAIDS in practice of Russian rheumatologist

  • Open Access
  • Meeting abstract

E Fedorov, S Salugina, N Kuzmina

P02-013 - TH17 cells and regulatory T cells in TRAPS

  • Open Access
  • Meeting abstract

PM Vaitla, E Drewe, EM McDermott, I Todd, L Fairclough

P02-014 - Consequences of Arginine 92 mutations in TNFR1

  • Open Access
  • Meeting abstract

I Jéru, S Charmion, E Cochet, B Copin, G Le Borgne, P Cathebras, J Gaillat, P Duquesnoy, S Karabina, V Hentgen, S Amselem

P02-015 - A novel MVK mutation in a child with AA amyloid

  • Open Access
  • Meeting abstract

A Kolsky, D Rowczenio, H Lachmann, Z Vernerova, F Votava, P Dolezalova

P02-016 - A novel PSMB8 mutation causing candle syndrome

  • Open Access
  • Meeting abstract

V Messia, M Pardeo, R Nicolai, C Bracaglia, F De Benedetti, A Insalaco

P02-017 - Periodic fever syndrome masquerading as eczema…

  • Open Access
  • Meeting abstract

TV Nguyen, J Sugarman, K Leslie

P02-018 - PSTPIP1 gene mutations in periodic fever patients

  • Open Access
  • Meeting abstract

K Takabe, Y Adachi, H Saito, T Yamashita, Y Wakai, K Saito, Y Shinohara

P02-019 - Detection of risk factors for AA-amyloidosis

  • Open Access
  • Meeting abstract

S Németh, L Obici, S Grandemange, H Lachmann, C Oberkanins

P02-020 - CAPS in Turkish children: treatment with ANTI IL1

  • Open Access
  • Meeting abstract

FK Kara Eroglu, N Besbas, F Ozaltin, Y Bilginer, A Duzova, S Ozen

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations

  • Open Access
  • Meeting abstract

E Gonzalez-Roca, G Espinosa, J Bartra, E Ruiz-Ortiz, J Rius, S Plaza, J Yague, JI Arostegui

P02-022 - Atypical cryopirin associated periodic syndrome

  • Open Access
  • Meeting abstract

S Bujan Rivas, JI Arostegui Gorospe, A Sellas Fernandez, CP Simeon Aznar, J Aguilar Company, J Ordi Ros, M Vilardell Tarres

P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS

  • Open Access
  • Meeting abstract

Q Zhou, AK Ombrello, D Chin, DL Kastner, I Aksentijevich

P02-024 - Clinical impact of V198M mutation in NLRP3 gene

  • Open Access
  • Meeting abstract

R Caorsi, A Insalaco, L Obici, L Cantarini, A Meini, M Alessio, L Lepore, F Zulian, F Caroli, I Ceccherini, A Martini, M Gattorno

P02-025 - Homozygous Q705K sequence variant in NLRP3

  • Open Access
  • Meeting abstract

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

P02-026 - Model-based characterization of the PKPD relationship for canakinumab in CAPS: a step towards personalized

  • Open Access
  • Meeting abstract

A Gautier, P Lowe, A Skerjanec, P McKernan, O Luttringer, M Fink

P02-027 - Quality of life in CAPS treated by Canakinumab

  • Open Access
  • Meeting abstract

C Marsaud, I Marie, I Koné-Paut

P02-028 - Muckle-Wells syndrome and renal transplantation

  • Open Access
  • Meeting abstract

B Kortus-Götze, J Hoyer

P02-029 - CAPS or SJIA

  • Open Access
  • Meeting abstract

E Alekseeva, R Denisova, S Valieva, T Bzarova, T Sleptsova, E Mitenko, K Isayeva

P02-030 - Unusual CNS manifestation

  • Open Access
  • Meeting abstract

E Schuh, P Lohse, I Meinl, T Kümpfel

P02-031 - Phenotype of V198M and Q703K NLRP3 variants

  • Open Access
  • Meeting abstract

V Messia, M Pardeo, R Nicolai, C Bracaglia, F De Benedetti, A Insalaco

P02-032 - CAPS: a novel mutation and an unusual phenotype

  • Open Access
  • Meeting abstract

A Insalaco, PS Buonuomo, C Bracaglia, M Pardeo, I Ceccherini, R Nicolai, F De Benedetti

P02-033 - CAPS diagnosis and treatment in an Israeli family

  • Open Access
  • Meeting abstract

Y Shinar, G Breuer, A Livneh, P Hashkes

PW02-001 - Exome sequencing for autoinflammatory disorders

  • Open Access
  • Meeting abstract

SE Boyden, Q Zhou, I Aksentijevich, DL Kastner

PW02-002 - Single MVK mutation and recurrent fevers

  • Open Access
  • Meeting abstract

K Barron, A Ombrello, D Goldsmith, I Aksentijevich, A Jones, D Kastner

PW02-003 - Efficacy of anakinra in etanercept-resistant TRAPS

  • Open Access
  • Meeting abstract

AK Ombrello, PM Hoffmann, A Jones, KS Barron, DL Kastner

PW02-004 - Autoinflammatory syndromes: a clinical review

  • Open Access
  • Meeting abstract

CM Biggs, JS Hausmann, S Kim, E Janssen, P Nigrovic, R Fuhlbrigge, R Sundel, F Dedeoglu

PW02-005 - A web registry of genotype-phenotype correlation

  • Open Access
  • Meeting abstract

M Doglio, R Papa, R Caorsi, S Federici, M Finetti, A Naselli, N Ruperto, A Martini, I Ceccherini, M Gattorno

PW02-006 - PAPA syndrome clinical spectrum and IL1B release

  • Open Access
  • Meeting abstract

A Omenetti, R Caorsi, S Carta, L Delfino, A Martini, A Rubartelli, M Gattorno

PW02-007 - The Eurofever registry: 3 years of enrollment

  • Open Access
  • Meeting abstract

S Federici, J Frenkel, S Ozen, A Jordi, JI Arostegui, F De Benedetti, P Dolezalova, H Girschick, V Hentgen, M Hofer, H Lachmann, I Koné-Paut, J Kuemmerle-Deschner, B Neven, H Ozdogan, C Rose, A Simon, S Stojanov, N Toplak, I Touitou, R Vesely, P Woo, C Wouters, N Ruperto, A Martini, M Gattorno

PW02-008 - TRAPS in the real world: an international registry

  • Open Access
  • Meeting abstract

HJ Lachmann, R Papa, K Minden, L Obici, L Cantarini, J Frenkel, J Anton, I Koné-Paut, M Cattalini, B Bader-Meunier, N Ruperto, A Martini, I Touitou, P Woo, M Gattorno

PW02-009 - PAPA syndrome: results from the Euroefever registry

  • Open Access
  • Meeting abstract

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

PW02-010 - The diagnostic challenge of bone lesions in AID

  • Open Access
  • Meeting abstract

R Caorsi, P Picco, A Buoncompagni, S Signa, F Minoia, S Federici, A Martini, M Gattorno

PW02-011 - Favorable response to anakinra in aisle patients

  • Open Access
  • Meeting abstract

H Ozdogan, M Gattorno, S Ugurlu, M Di Rocco, G Hatemi, D Ustek, A Gul

PW02-012 - First clinical description of an infant with DITRA

  • Open Access
  • Meeting abstract

L Rossi-Semerano, M Piram, C Chiaverini, D De Ricaud, A Smahi, I Koné-Paut

PW02-013 - The role of IL6 and LPS in pathogenesis of TRAPS

  • Open Access
  • Meeting abstract

S Savic, L Ouboussad, LJ Dickie, CH Wong, R Doble, W Miriam, MF McDermott

PW02-014 - Long term outcome and quality of life in TRAPS

  • Open Access
  • Meeting abstract

T Lane, A Bybee, NM Stewart, DM Rowczenio, JD Gillmore, R Al-Nackkash, H Trojer, AD Wechalekar, PN Hawkins, HJ Lachmann

PW02-015 - Eight years HPFS experience in a single UK centre

  • Open Access
  • Meeting abstract

DM Rowczenio, H Trojer, G Wang, PN Hawkins, HJ Lachmann, A Baginska, T Russell, R Al-Nackkash, A Bybee

PW02-016 - 41 cases of TRAPS, a rare autoinflammatory disease

  • Open Access
  • Meeting abstract

M-C Chastang, M Desjonqueres, V Hentgen, P Quartier Dit Maire, G Grateau, I Kone-Paut, B Bader-Meunier, C Wouters, I Lemelle, P Cochat

PW02-017 - New tools for the ISSAID society website

  • Open Access
  • Meeting abstract

I Touitou, F Milhavet

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

  • Open Access
  • Meeting abstract

D Holzinger, P Lohse, S Faßl, J Austermann, T Vogl, W de Jager, S Holland, M Gattorno, C Rodriguez-Gallego, J Arostegui, S Fessatou, B Isidor, K Ito, H-J Epple, J Bernstein, M Jeng, G Lionetti, P Ong, C Hinze, B Sampson, C Sunderkoetter, D Foell, J Chae, A Ombrello, J Brady, I Aksentijevich, J Roth

PW02-019 - Inflammatory pathways activation in TRAPS patients

  • Open Access
  • Meeting abstract

O Negm, EM McDermott, E Drewe, R Powell, F Lucy, T Ian, P Tighe

PW02-020 - Colitis revealing mevalonate kinase deficiency

  • Open Access
  • Meeting abstract

L Michael, J Camille, BM Brigitte

PW02-021 - SAA1 is the strongest predictor of AA in TRAPS

  • Open Access
  • Meeting abstract

L Obici, HJ Lachmann, I Touitou, G Palladini, S Donadei, M Pasotti, L Cantarini, K Gerhold, A Meini, N Toplak, P Woo, A Martini, G Merlini, M Gattorno

PW02-022 - Recurrent fever syndromes: multiple gene mutations

  • Open Access
  • Meeting abstract

M Bohm, P Dolezalova, H Lachmann, C Modesto, I Touitou, P Woo, M Finetti, V Hentgen, L Cantarini, F De Benedetti, R Gallizzi, L Obici, R Manna, E Gallo, N Ruperto, M Gattorno

PW02-023 - Qualitative aspects of autoinflammatory diseases

  • Open Access
  • Meeting abstract

D Konukbay, D Yildiz, C Acikel, D Karaman, B Eren-Fidanci, Y Bilginer, I Koné-Paut, J Frenkel, M Gattorno, S Ozen, E Demirkaya

PW02-024 - A case of candle syndrome treated with thalidomide

  • Open Access
  • Meeting abstract

K Yamazaki, T Miyamae, S Yokota

PW02-024-B - First report of AA amyloidosis in Blau syndrome

  • Open Access
  • Meeting abstract

E Ruiz-Ortiz, A Saurina, E González-Roca, M Solé, C Modesto, F Rius, S Plaza, J Yagüe, JI Aróstegui

PW02-025 - Programme necrosis by CAPS-associated NLRP3

  • Open Access
  • Meeting abstract

T Satoh, N Kambe, H Matsue

PW02-026 - Low frequency variants of NLRP3 in CAPS patients

  • Open Access
  • Meeting abstract

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

PW02-027 - CAPS and cost-effectiveness analysis project

  • Open Access
  • Meeting abstract

O Della Casa Alberighi, L Accame, J Frenkel, M Gattorno, A Martini, B Neven, P Quartier, F Pierotti, G Turchetti

PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients

  • Open Access
  • Meeting abstract

A Berdeli, S Nalbantoglu, D Tigli, I Demirel, M Atan, B Sozeri

PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID

  • Open Access
  • Meeting abstract

K Nakagawa, N Shimura, Y Shirasaki, M Yamagishi, K Izawa, R Nishikomori, T Kawai, T Yasumi, T Heike, O Ohara

PW02-030 - Clinical phenotype in individuals with Q703K

  • Open Access
  • Meeting abstract

DM Rowczenio, H Trojer, G Wang, PN Hawkins, HJ Lachmann, A Baginska, T Russell, R Al-Nackkash, A Bybee, NM Stewart, T Lane

PW02-031 - Genetic and clinical manifestations of CAPS

  • Open Access
  • Meeting abstract

AK Bybee, H Lachmann, E Omoyinmi, B Nedjai, P Woo, T Lane, S Savic, P Hawkins, M McDermott

PW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations

  • Open Access
  • Meeting abstract

T Kümpfel, E Schuh, R Hohlfeld, P Lohse

PW02-033 - Cytokine profile in CSF in CAPS patients

  • Open Access
  • Meeting abstract

E Schuh, P Lohse, M Frankenberger, I Meinl, T Kuempfel

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS

  • Open Access
  • Meeting abstract

M Stoffels, M Elferink, P van Zon, J Frenkel, E Hoppenreijs, A Simon, M van Gijn

PW02-035 - A role for thermo-TRP channels in innate immunity?

  • Open Access
  • Meeting abstract

M Stoffels, T Remijn, LM Elders, HD de Koning, JW van der Meer, A Simon

PW02-036 - Thermosensitive CA2+ assay innate immune cells

  • Open Access
  • Meeting abstract

T Remijn, M Stoffels, A Simon, JW van der Meer

PW02-037 - The Eurofever cohort of 136 patients with CAPS

  • Open Access
  • Meeting abstract

R Levy, L Gerard, J Kuemmerle-Deschner, H Lachmann, I Koné-Paut, L Cantarini, P Woo, A Naselli, B Bader-Meunier, F De Benedetti, SM Al-Mayouf, S Ozen, M Hofer, J Frenkel, C Modesto, I Nikishina, A Martini, N Ruperto, B Neven, M Gattorno

PW02-038 - Treatment-resistant NOMID with autoantibodies

  • Open Access
  • Meeting abstract

L Broderick, J Chang, I Szer, HM Hoffman

PW02-039 - Long-term anakinra treatment in CAPS: a metaanalys

  • Open Access
  • Meeting abstract

M Leinonen, B Hallén, M Aldén-Raboisson, H Olivecrona

PW02-040 - Low-penetrance NLRP3 variants

  • Open Access
  • Meeting abstract

T Endres, F Hofer, R Goldbach-Mansky, HM Hoffman, N Blank, K Krause, C Rietschel, G Horneff, P Lohse, J Kuemmerle-Deschner

PW02-041 - Canakinumab treatment regimens in CAPS-patients

  • Open Access
  • Meeting abstract

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

PW02-042 - Induction of MDSC in Muckle-Wells syndrome

  • Open Access
  • Meeting abstract

N Rieber, A Brand, D Neri, T Hall, I Schäfer, S Hansmann, J Kümmerle-Deschner, D Hartl

OR9-001 - Exome sequencing in monogenic Behçet-like disease

  • Open Access
  • Meeting abstract

Q Zhou, R Laxer, M Pelletier, M Ramaswamy, H-Y Wang, D Chin, A Gül, C Sibley, M Barat-Houari, R Siegel, DL Kastner, I Aksentijevich

OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

  • Open Access
  • Meeting abstract

R Siegel, L Billingham, M pelletier, C Cudrici, A Ombrello, M Murphy, D Kastner

OR10-002 - A novel TNFR1 transcript of TRAPS gene

  • Open Access
  • Meeting abstract

C Rittore, E Sanchez, S Soler, M Albers, L Obici, MF McDermott, I Touitou, S Grandemange

OR10-004 - Circulating micrornas in TRAPS

  • Open Access
  • Meeting abstract

OM Lucherini, L Obici, M Ferracin, V Fulci, MF McDermott, G Merlini, I Muscari, F Magnotti, LJ Dickie, M Galeazzi, M Negrini, CT Baldari, R Cimaz, L Cantarini

OR10-005 - Treatment responses in TRAPS: Eurofever/ Eurotraps

  • Open Access
  • Meeting abstract

HJ Lachmann, K Minden, L Obici, A Naselli, A Insalaco, V Hentgen, R Merino, C Modesto, N Toplak, R Berendes, R Cimaz, A Jansson, A Martini, P Woo, I Touitou, M Gattorno

OR10-006 - Canakinumab in patients with TRAPS

  • Open Access
  • Meeting abstract

HJ Lachmann, L Obici, A Meini, V Tormey, K Abrams, N Davis, C Andrews, SG Bhansali, M Gattorno

OR11-001 - Protein misfolding in mevalonate kinase deficiency

  • Open Access
  • Meeting abstract

S Stojanov, SW Gersting, L Reitzle, D Reiß, BH Belohradsky, M Vogeser, B Maier, D Teupser, AC Muntau

OR11-002 - Mutations in MVK cause non-syndromic RP

  • Open Access
  • Meeting abstract

AM Siemiatkowska, M Stoffels, K Neveling, A Simon, PM van Hagen, AI den Hollander, FP Cremers, LI van den Born, RW Collin

OR11-003 - The NLRP3 inflammasome is regulated by CaSR

  • Open Access
  • Meeting abstract

JJ Chae, G-S Lee, N Subramanian, DL Kastner

OR11-004 - IL-1, IL-18 and cell death in NLRP3 driven disease

  • Open Access
  • Meeting abstract

L Broderick, SD Brydges, MD McGeough, CA Pena, JL Mueller, HM Hoffman

OR11-005 - Mast cells respond to pathogen signals with IL-1ß

  • Open Access
  • Meeting abstract

L Kraas, O Schmetzer, K Krause, E Latz, M Maurer

OR11-006 - A mutation in NLRP1A causes autoinflammation

  • Open Access
  • Meeting abstract

SL Masters, M Gerlic, BT Kile, BA Croker

P03-001 - PFAPA and MEFV genes

  • Open Access
  • Meeting abstract

F Salehzadeh, M Vahedi, S Jahangiri, S Hosseiniasl

P03-002 - Different phenotypes associated with Q703K variant

  • Open Access
  • Meeting abstract

A von Scheven-Gête, I Moix, G Simon, N Busso, M Morris, M Hofer

P03-003 - Sacroilitis with propionibacterium acnes

  • Open Access
  • Meeting abstract

C Galeotti, I Koné-Paut

P03-004 - Production of proinflammatory cytokines in PFAPA

  • Open Access
  • Meeting abstract

A Kozlova, O Barabanova, N Davydova, A Shcherbina

P03-005 - MEFV heterozygous mutations in PFAPA patients

  • Open Access
  • Meeting abstract

A Kozlova, O Barabanova, N Kuzmenko, N Zinovieva, O Molochnikova, A Shcherbina

P03-006 - Pamidronate rapidly decreases CRP and TNFΑ in CNO

  • Open Access
  • Meeting abstract

MM Kostik, LI Vasyakina, VM Ponomarenko, IA Chikova, AV Minkin, OV Kalashnikova, IV Shvedovchenko, VG Chasnyk

P03-007 - Mevalonate kinase gene in Behçet’s disease

  • Open Access
  • Meeting abstract

D Arslan Tas, E Erken, F Yıldız, S Dinkçi, H Sakallı

P03-008 - Gastrointestinal involvement in Behçet’s syndrome

  • Open Access
  • Meeting abstract

I Hatemi, G Hatemi, Y Erzin, AF Celik, H Yazici

P03-009 - Experiences of in pediatric Behçet uveitis

  • Open Access
  • Meeting abstract

B Sozeri, S Yilmaz, S Mir, H Ates

P03-010 - IL10 SNPs associated with BD in Western Algeria

  • Open Access
  • Meeting abstract

O Khaib Dit Naib, M Aribi, A Idder, A Chiali, H Sairi, I Touitou, G Lefranc, M Barat-Houari

P03-010-B - A novel mutation in MEFV gene is not enough

  • Open Access
  • Meeting abstract

D Martorana, M Carrabba, G Fabio

P03-011 - Differential for granulomatosis with polyangiitis

  • Open Access
  • Meeting abstract

SM Rawn, P Miettunen, H Schmeling

P03-012 - A P268S NOD2 mutation in one Blau patient

  • Open Access
  • Meeting abstract

M Pardeo, E Cortis, C Bracaglia, R Nicolai, F De Benedetti, A Insalaco

P03-012-B - Lupus erythematous chronicus: a new etiology of macrocheilitis

  • Open Access
  • Meeting abstract

M Mael-Ainin, H Boudhir, A Saidi, B Hassam, K Senouci

P03-013 - Symptomatic neuromuscular sarcoidosis

  • Open Access
  • Meeting abstract

M Mulazzani, C Haberler, F Zimprich, EV Hartl, H Cetin

P03-013-B - Inaugural palate nodule of a systemic sarcoidosis

  • Open Access
  • Meeting abstract

M Mael-Ainin, M Bouaddi, K El Morabite, S Abil, A Abdou, K Senouci, B Hassam, I El Meknassi

P03-014 - Biological therapy for autoinflammatory disorders

  • Open Access
  • Meeting abstract

S Bujan Rivas, JI Arostegui Gorospe, F Martinez Valle, R Solans laque, JF Andres Cordon, J Ordi Ros, M Vilardell Tarres

P03-015 - Dapson treats chronic Pupura Schoenlein (PSH)

  • Open Access
  • Meeting abstract

G Dueckers, M Frosch, C Assaf, H Wiggermann, D Schneider, T Niehues

P03-016 - ANTI IL1 refractory CINCA respondes to ANTI IL6

  • Open Access
  • Meeting abstract

G Dueckers, K Sinha, V Soditt, G Ganser, T Niehues

P03-017 - Health related quality of life in adult with HRFS

  • Open Access
  • Meeting abstract

HJ Lachmann, N Stewart, T Lane, DM Rowczenio, PN Hawkins

P03-018 - Diversity in presenting manifestations of AUTOINFL

  • Open Access
  • Meeting abstract

S Boiu, B Neven, S Compeyrot-Lacassagne, R Mouy, C Wouters, B Bader-Meunier, M Gattorno, P Quartier

P03-019 - Anakinra for sweet syndrome treatment

  • Open Access
  • Meeting abstract

G Passaro, L Cerrito, M Giovinale, A Marinaro, A Soriano, D Rigante, R Manna

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis

  • Open Access
  • Meeting abstract

E Erken, Ç Köroğlu, F Yıldız, HT Özer, B Gülek, A Tolun

P03-021 - Characterization of BM-MSC from osteopetrotic mice

  • Open Access
  • Meeting abstract

F Schena, E Caci, N Lo Iacono, V Marrella, M Gattorno, A Martini, C Sobacchi, A Villa, E Traggiai

P03-022 - Calprotec in chronic nonbacterial osteomyelitis

  • Open Access
  • Meeting abstract

J Brunner

P03-023 – Autoinflammatory diseases database in Japan

  • Open Access
  • Meeting abstract

T Kawai, R Nishikomori, M Awaya, K Nakagawa, K Izawa, T Yasumi, O Ohara, T Heike

P03-024 – Early onset IBD treated by tocilizumab

  • Open Access
  • Meeting abstract

R Helbling, A Nyddeger, F Angelini, A Von Scheven Gete, M Hofer

P03-025 – Differential diagnosis of autoimmune disorders

  • Open Access
  • Meeting abstract

A Kozlova, N Zinovieva, J Bustamante, S Boisson-Dupuis, J-L Casanova, A Shcherbina

P03-026 – Sweet’s syndrome: report of a new case

  • Open Access
  • Meeting abstract

M Mael-Ainin, H Boudhir, A Saidi, K Senouci, B Hassam

P03-028 – Spectacular efficiency of isotretinoin in small doses in the sebopsoriasis treatment

  • Open Access
  • Meeting abstract

M Mael-Ainin, H Boudhir, A Saidi, K Senouci, B Hassam

PW03-001 - PFAPA syndrome in Turkish children

  • Open Access
  • Meeting abstract

ED Batu, F Kara Eroglu, Y Bilginer, S Ozen

PW03-002 – Calculating Gaslini diagnostic score in PFAPA

  • Open Access
  • Meeting abstract

I Bosio, A Meini, P Cancarini, G Savoldi, M Berlucchi, M Cattalini

PW03-003 – Altered neutrophil function in PFAPA

  • Open Access
  • Meeting abstract

M Sundqvist, P Wekell, V Osla, J Bylund, K Christensson, K Sävman, A Fasth, S Berg, KL Brown, A Karlsson

PW03-004 - PFAPA patient’s serum sensitizes monocytes to LPS

  • Open Access
  • Meeting abstract

G Simon, N Busso, A von Scheven-Gete, A So, M Hofer

PW03-005 - NLRP3-Q705K monocytes do not produce more IL-1B

  • Open Access
  • Meeting abstract

G Simon, N Busso, A von Scheven-Gete, I Moix, M Morris, A So, M Hofer

PW03-006 - IL-1-B inhibition in Schnitzler’s syndrome

  • Open Access
  • Meeting abstract

HD De Koning, J Schalkwijk, J Jongekrijg, M Stoffels, JW van der Meer, A Simon

PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome

  • Open Access
  • Meeting abstract

HD De Koning, J Schalkwijk, JW van der Meer, PL Zeeuwen, K Neveling, M van Gijn, A Simon

PW03-008 – Mitochondrial disturbances in Schnitzler syndrome

  • Open Access
  • Meeting abstract

A Sediva, H Hansikova, J Sladkova, M Rodinova, Z Hajkova, J Zeman, P Szturz

PW03-009 – Genetics of PFAPA syndrome

  • Open Access
  • Meeting abstract

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

PW03-010 - MHC complexity in Behçet's disease

  • Open Access
  • Meeting abstract

MJ Ombrello, Y Kirino, P de Bakker, F Cosan, DL Kastner, A Gul, EF Remmers

PW03-011 – New Behçet's loci and gene-gene interactions

  • Open Access
  • Meeting abstract

EF Remmers, Y Kirino, G Bertsias, MJ Ombrello, G Wood, Y Ishigatsubo, N Mizuki, I Tugal-Tutkun, E Seyahi, Y Ozyazgan, DL Kastner, A Gül

PW03-012 – Unmet need in Behçet's disease: remission is rare

  • Open Access
  • Meeting abstract

F Alibaz-Oner, G Mumcu, Z Kubilay, G Ozen, G Celik, A Karadeniz, M Can, S Yılmaz Oner, N Inanc, P Atagündüz, H Direskeneli

PW03-013 - Behçet's disease: genotype-phenotype correlations

  • Open Access
  • Meeting abstract

M Takeuchi, T Kawagoe, A Meguro, Y Ishigatsubo, E Remmers, D Kastner, N Mizuki

PW03-014 - TLR4 and MEFV variants are Behçet's risk factors

  • Open Access
  • Meeting abstract

Y Kirino, Q Zhou, Y Ishigatsubo, N Mizuki, Y Kim, DL Kastner, A Gül, EF Remmers

PW03-014B - Gene-expression profiling study in FMF families

  • Open Access
  • Meeting abstract

B Aygun, M Carrabba, M Fabbri, L Gribaldo, M Zarantonello, G Fabio

PW03-016 – Blau prospective cohort study: articular outcomes

  • Open Access
  • Meeting abstract

CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira-Knupp, F Mackensen, J Arostegui, J Anton, J Fernandez-Martin, C Wouters

PW03-017 – Combination TNF and IL-1 blockade in PAPA syndrome

  • Open Access
  • Meeting abstract

P Hoffmann, AK Ombrello, DL Stone, KS Barron, DL Kastner

PW03-018 – Efficacy of Anakinra in recurrent pericarditis

  • Open Access
  • Meeting abstract

M Finetti, A Insalaco, L Cantarini, M D'Alessandro, A Meini, L Breda, M Alessio, P Picco, A Martini, M Gattorno

PW03-019 – Survey of off-label ANTI-IL1 treatments in France

  • Open Access
  • Meeting abstract

L Rossi-Semerano, B Fautrel, D Wendling, E Hachulla, A Meyer, S Ottaviani, C Galeotti, M Fouillet-Desjonqueres, O Richer, I Touitou, I Koné-Paut

PW03-020 – A decade of ANTI-IL-1 therpay for CAPS in the UK

  • Open Access
  • Meeting abstract

T Lane, NM Stewart, A Bybee, DM Rowczenio, K Wynne, H Trojer, A Baginska, PA Brogan, PN Hawkins, HJ Lachmann

PW03-021 - HSCT in mevalonate kinase deficiency

  • Open Access
  • Meeting abstract

B Wolska-Kuśnierz, B Mikołuć, R Motkowski, K Kałwak, E Bernatowska, D Rowczenio

PW03-022 – Neutrophilic skin disease and inflammation

  • Open Access
  • Meeting abstract

K Webb, C Hlela, C Scott

PW03-023 – Role of S100A4 in inflammatory disorders

  • Open Access
  • Meeting abstract

M Grigorian, MT Hansen, B Forst, D Sevumian, J Klingelhofer, H Hayrapetyan, T Sarkisian, N Ambartsumian

PW03-024 - A transgenic mouse model for variant procaspase-1

  • Open Access
  • Meeting abstract

A Hermsdorf, F Pessler, H Luksch, S Winkler, R Naumann, J Roesler, A Roers, A Rösen-Wolff

PW03-025 - Procaspase-1 contributes to inflammation via NF-KB

  • Open Access
  • Meeting abstract

M Heymann, S Winkler, S Özen, E Yilmaz, T Kallinich, A Rösen-Wolff, J Roesler, S Hofmann

PW03-026 - Caspase-1 variants involved in ER stress

  • Open Access
  • Meeting abstract

H Luksch, V Schlipfenbacher, S Winkler, J Roesler, A Rösen-Wolff

PW03-027 - CASP1 variants and live cell imaging

  • Open Access
  • Meeting abstract

S Rabe, MC Heymann, S Russ, S Winkler, J Roesler, A Rösen-Wolff, SR Hofmann

PW03-028 – Atypical presentation of CRMO in two children

  • Open Access
  • Meeting abstract

F Vanoni, A Von Scheven-Gête, M Hofer

PW03-029 – Risk factors for AA-type amyloidosis in Germany

  • Open Access
  • Meeting abstract

N Blank, P Lohse, U Hegenbart, H-M Lorenz, SO Schoenland

PW03-030 – Collecting patients data to inform genetic studies

  • Open Access
  • Meeting abstract

AK Bybee, F Aslam, E Majdoub, D Rowczenio, A Baginkska, R Al-Nackkash, W Taylor, P Hawkins, H Lachmann

PW03-031 – Activation-induced cell death of human monocytes

  • Open Access
  • Meeting abstract

M Miranda-Garcia, J Daebritz, G Varga, T Weinhage, J Ehrchen, K Barczyk, J Roth, D Foell

PW03-032 – Periodic fevers in children

  • Open Access
  • Meeting abstract

C Harper, C Corlett, G Macdonald, G Worthington, D Porter, D Kelly, S Segal, AJ Pollard, S Atkinson

PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

  • Open Access
  • Meeting abstract

I Melki, K Lambot, L Jonard, V Couloigner, P Quartier, B Neven, B Bader-Meunier

PW03-034 – How to classify autoinflammatory diseases?

  • Open Access
  • Meeting abstract

G Grateau, V Hentgen, K Stankovic, I Jéru, S Amselem, O Steichen

PW03-035 – Autoinflammatory diseases diagnostic chart/tool

  • Open Access
  • Meeting abstract

KL Durrant, I Muscari, JI Aróstegui

PW03-036 – Neutrophilic urticaria with systemic inflammation

  • Open Access
  • Meeting abstract

H Belani, K Leslie

OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

  • Open Access
  • Meeting abstract

Q Zhou, A Zavialov, J Chae, M Hershfield, R Sood, S Burgess, A Zavialov, D Chin, M Gadina, R Goldbach-Mansky, A Ombrello, D Stone, I Aksentijevich, D Kastner

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)

  • Open Access
  • Meeting abstract

E Levy-Lahad, P Elkan-Navon, R Segel, SB Pierce, T Walsh, J Barash, S Padeh, A Zlotogorski, YY Berkun, JJ Press, M Mukamel, PJ Hashkes, LL Harel, M Tekin, F Yalcinkaya, O Kasapcopur, EF Emirogullari, MK Lee, RE Klevit, PF Renbaum, A Weinberg-Shukron, S Zeligson, D Marek-Yagel, M Shohat, A Singer, E Pras, AA Rubinow, Y Anikster, M-C King

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

  • Open Access
  • Meeting abstract

I Jéru, E Cochet, P Duquesnoy, V Hentgen, B Copin, M Mitjavila-Garcia, S Sheykholeslami, G Le Borgne, F Dastot, S Karabina, M Mahevas, S Chantot-Bastaraud, L Faivre, S Amselem

OR13-004 – Evidence-based clinical classification criteria for periodic fevers

  • Open Access
  • Meeting abstract

S Federici, S Ozen, I Koné-Paut, H Lachmann, P Woo, L Cantarini, G Amaryan, A Insalaco, J Kuemmerle-Deschner, B Neven, N Dewarrat, Y Uziel, D Rigante, T Herlin, S Martino, A Simon, S Stojanov, H Ozdogan, J Frenkel, N Ruperto, A Martini, M Sormani, M Hofer, M Gattorno

OR13-005 – Investigation of clinical and laboratory significance of TNFRSF1A intron by reverse-phase protein microarray

  • Open Access
  • Meeting abstract

E Drewe, O Negm, W Abduljabbar, P Hawkins, L Fairclough, I Todd, P Tighe

OR14-001 – Tocilizumab in autoinflammation and AA amyloidosis

  • Open Access
  • Meeting abstract

T Lane, JD Gillmore, AD Wechalekar, NM Stewart, JA Gilbertson, S Sachchithanantham, DM Rowczenio, S Banypersad, JH Pinney, S Mahmood, HJ Lachmann, PN Hawkins

OR14-002 - ANTI IL-1 therapies and pregnancy outcome

  • Open Access
  • Meeting abstract

HJ Lachmann, H Ozdogan, A Simon, N Stewart, DM Rowczenio, S Ugurlu, T Lane, PN Hawkins

Kompaktes Leitlinien-Wissen Pädiatrie (Link öffnet in neuem Fenster)

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Neu im Fachgebiet Pädiatrie

Von einer Mandelallergie, die keine mehr war

Ein zweijähriger Junge mit bekannter Mandelallergie und auffälligen Reaktionen auf Mückenstiche soll auf weitere Allergien getestet werden – eigentlich ein klarer Fall. Doch ein unerwartet erhöhter Tryptase-Wert lässt den Kinderpneumologen aufhorchen. Was steckt hinter diesem Laborergebnis?

Konjunktivaler Provokationstest gelingt leicht in der Praxis

Die aktualisierte S2k-Leitlinie zur Provokationstestung bei allergischen oberen Atemwegserkrankungen steht kurz vor der Verabschiedung. Hinzugekommen ist nun auch die konjunktivale Provokation.

Unkontrolliertes Asthma: Welches Biologikum beim Kind?

Bevor ein Kind mit unkontrolliertem Asthma ein Biologikum erhält, muss zunächst klar sein, dass die Diagnose stimmt. Die Auswahl hängt dann nicht nur vom Zulassungsstatus ab, sondern auch vom jeweiligen Asthma-Phänotyp.

Knoten im Blasenkatheter – und jetzt?

Einem sechsjährigen Jungen wird aufgrund einer operativen Korrektur einer Hypospadie ein Blasenkatheter gelegt. Zehn Tage später soll der Katheter entfernt werden – doch er sitzt fest. So löste das Team das Problem.

Update Pädiatrie

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Bildnachweise
Die Leitlinien für Ärztinnen und Ärzte, Mandeln in und neben einem Holzschälchen/© onairjiw / Getty Images / iStock (Symbolbild), Kind erhält Augentropfen/© Nadzeya Haroshka / Getty Images / iStock (Symbolbild mit Fotomodell), Kind benutzt Inhalator gegen Asthma/© M. Dykstra / Fotolia (Symbolbild mit Fotomodell), Urinkatheter/© Sherry Young / stock.adobe.com