Volume 13 Supplement 1

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Meeting abstracts

Publication of this supplement has been funded by the International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases.

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases.

Dresden, Germany30 September - 3 October 2015

Concatenated PDF 13S1

Page 2 of 6

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O54

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
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

Authors: G Richard, C Lauricella, Z Xu and I Aksentijevich

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O55

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Mevalonate kinase deficiency: an early onset inflammatory bowel disease?

Authors: 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 and I Melki

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O56

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O57

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O58

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O59

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O60

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Influence of the naturally occurring human CASP1 variant L265S on subcellular distribution and pyroptosis

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O61

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Familial chilblain lupus caused by an activating mutation in STING

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O62

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Interferon gamma (IFNg) drives disease in the TLR9-mediated cytokine storm syndrome in mice

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O63

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
S100A12 as diagnostic tool in the differential diagnosis of sJIA associated MAS vs. hereditary or acquired HLH

Authors: 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 and D Foell

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O64

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
A decade of anti-IL-1 therapy in CAPS - a spectrum of efficacy in this spectrum of diseases

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O65

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Effectiveness of canakinumab treatment in Schnitzler's syndrome: a multi-center randomized placebo-controlled study

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O66

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
International experience of pregnancy outcomes in auto-inflammatory syndromes treated with Interleukin-1 inhibitors

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O67

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Anti interferon-gamma (IFNγ) monoclonal antibody treatment in a patient carrying an NLRC4 mutation and severe hemophagocytic lymphohistiocytosis

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O68

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Empirical use of anakinra in AA amyloidosis of uncertain aetiology

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O70

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O71

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
A functional inflammasome activation assaydifferentiates patients with pathogenic NLRP3mutations and symptomatic patients with lowpenetrance variants

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O74

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O75

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

Authors: 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 and R Merino

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O76

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Serum biomarkers for the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO)

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O77

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Long-term outcomes of tonsillectomy in children with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O78

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Enzymatically inactive procaspase-1 stabilizes the ASC-pyroptosome

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O79

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O80

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O81

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome

Authors: 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 and M Gattorno

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O82

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Long term efficacy and safety of canakinumab in children with systemic juvenile idiopathic arthritis with and without fever

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O83

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
High levels of interferon-gamma (IFNγ) in macrophage activation syndrome (MAS) and CXCL9 levels as a biomarker for IFNγ production in MAS

Authors: 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 and F De Benedetti

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O84

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
STING-associated vasculopathy with onset in infancy: new clinical findings and mutation in three Turkish children

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O85

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O86

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa, livedo reticularis and/or stroke

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O87

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Immune dysregulation in patients with TRNT1 deficiency

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O88

Content type: Oral presentation Published on: 28 September 2015
- View Full Text
- View PDF
Efficacy, safety, and post-vaccination antibody titer data in children with CAPS treated with Canakinumab

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P1

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
A case with IGG4-related retroperitoneal fibrosis-periaortitis rapidly diagnosed and dramatically responded to steroid treatment

Authors: Y Karaaslan, Z Ozbalkan Aslar and S Can Sandikci

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P2

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Long-term safety and efficacy of Canakinumab in cryopyrin-associated periodic syndrome (CAPS) patients: results from beta-confident registry

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P3

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Genes responding to Canakinumab therapy in SJIA are -inversely - disregulated in adult onset Still's disease

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P4

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Monogenetic autoinflammatory syndromes and nephrology - therapy is usefull even in advanced kidney failure

Authors: K Hohenstein-Scheibenecker and A Schmidt

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P5

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Correlation between serum amyloid-A and serum levels of proinflammatory cytokines in patients with Behçet's disease

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P6

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Monogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P8

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
A case with febrile attacks and vasculopathy associated with ADA2 and MEFV gene mutations

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P9

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Serum IL-18 is a specific biomarker for Macrophage Activation Syndrome across several autoinflammatory diseases

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P10

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Interleukin-1 receptor antagonist treatment revealed active hepatitis B infection in a boy with PAPA syndrome

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P11

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Monogenic interferonopathy presenting as CMV infection in infancy

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P12

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Various inflammatory phenotypes in V200M NLRP3 carriers

Authors: A Kozlova, V Bobrynina, T Varlamova, A Maschan and A Shcherbina

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P13

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P14

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
The frequency of MEFV gene variations in Adult-onset Still's disease and Gout

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P15

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Challenging the opinion that SAPHO syndrome is associated with low intracellular ROS production in neutrophils

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P16

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
Expression of Caspase-1 variants induced ER stress

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P17

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
A transgenic in vitro cell model for the analysis of proinflammatory effects of naturally occurring genetic variants of caspase-1

Authors: F Schulze, E Hengst, S Winkler and A Rösen-Wolff

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P18

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF
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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P19

Content type: Poster presentation Published on: 28 September 2015
- View Full Text
- View PDF

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Meeting abstracts

Official journal of

Annual Journal Metrics

Pediatric Rheumatology

Contact us