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

Authors: M Fasshauer, S Borte, A Hauenherm, E Braun, H Reichenbach and M Borte

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P211

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Comparison of different treatment approaches in chronic non-bacterial osteomyelitis.

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P203

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Differential response to anakinra and adalimumab in a patient with DADA2 syndrome

Authors: B Toz, B Erer, S Kamali, L Ocal and A Gul

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P201

Content type: Poster presentation Published on: 28 September 2015

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PFAPA syndrome as an hereditary autoinflamatory disorder

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P198

Content type: Poster presentation Published on: 28 September 2015

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Immune dysregulation in Periodic Fever, Aphthous atomatitis, 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):P196

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Diet and diet combined with chronic aerobic exercise decreases body fat mass and alters plasma and adipose tissue inflammatory markers in obese women

Authors: N Lakhdar, M Denguezli, M Zaouali, A Zbidi, Z Tabka and A Bouassida

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P194

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Unmet psychosocial needs in CAPS

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P175

Content type: Poster presentation Published on: 28 September 2015

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

Authors: 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 and SM Benseler

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P173

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Recurrent Inflammatory Panniculitis with Partial Lipoatrophy and Elevated temperature: a possible new autoinflammatory disorder

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P171

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Temporal changes of serum cytokine/chemokine levels in patients of Nakajo-Nishimra syndrome treated with tocilizumab

Authors: N Kanazawa, Y Nakatani, Y Inaba, K Kunimoto, F Furukawa and F Ozaki

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P169

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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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

Authors: B Kraszewska-Glomba, Z Szymanska-Toczek and L Szenborn

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P167

Content type: Poster presentation Published on: 28 September 2015

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

Authors: T Miyamae, M Kawamoto, Y Kawaguchi and H Yamanaka

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P163

Content type: Poster presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P161

Content type: Poster presentation Published on: 28 September 2015

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

Authors: B Wolska-Kuśnierz, B Mikołuć and E Bernatowska

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P159

Content type: Poster presentation Published on: 28 September 2015

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Distinct cerebrovascular features in patients with ADA2 deficiency

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P157

Content type: Poster presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P140

Content type: Poster presentation Published on: 28 September 2015

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The analysis of inflammatory cell migration using primary neutrophils

Authors: E Avci, YZ Akkaya Ulum, E Yilmaz and B Balci-Peynircioglu

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P136

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Challenging case of Familial Mediterranean Fever and its management

Authors: A Al Hosani and ES Sharif

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P132

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Is Familial Mediterranean Fever a clinical diagnosis? Results of a field survey

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P126

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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How safe it is to treat pregnant FMF patients with Anakinra?

Authors: H Ozdogan, S Ugurlu and B Ergezen

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P124

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Assessment of the pathogenicity of the p.K695R and p.A744S Mediterranean fever gene variants

Authors: Y Shinar, E Giat, R Cohen and A Livneh

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P122

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Colchicine measurement using LC-MS/MS with ESI in serum with liquid liquid extraction

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P118

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV)

Authors: M Michelson, Chana Vinkler and Dorit Lev

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P103

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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L-ficolin and H-ficolin in patients with Familial Mediterranean fever

Authors: G Mkrtchyan and A Boyajyan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P101

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Prevalence of Mediterranean fever gene mutations in clinically suspected FMF patients in Algeria

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P94

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Familial Mediterranean Fever and Human autoinflammatory diseases

Authors: L Hovhannisyan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P71

Content type: Poster presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P69

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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B cells characterization in ADA2 Deficiency patients

Authors: 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…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P65

Content type: Poster presentation Published on: 28 September 2015

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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

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Authors: 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 and JI Arostegui

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P61

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P57

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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Enzymatically inactive caspase-1 mediates a proinflammatory phenotype in mice

Authors: S Reinke, A Gocht, H Luksch, A Rösen-Wolff and S Winkler

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O53

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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An optimized whole blood assay measuring expression and activity of NLRP3-, NLRC4 and AIM2-inflammasomes

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O51

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Two types of human Th17 cells with pro- and anti-inflammatory properties and distinct roles in autoinflammation

Authors: R Noster, H de Koning, F Sallusto and C Zielinski

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O49

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Factors affecting cardiovascular morbidity in young FMF patients. A comparative analysis in colchicine treated FMF patients with and without cardiovascular disease

Authors: AJ Roitman, I Ben Zvi, O Kukuy and A Livneh

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O47

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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Detection of low frequency variants of the NLRP3 gene in “mutation- negative” CAPS patients using massive parallel sequencing

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P34

Content type: Poster presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P32

Content type: Poster presentation Published on: 28 September 2015

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Hexameric S100A12 is required for pro-inflammatory TLR4-signalling

Authors: C Kessel, S Fühner, S Brockmeyer, H Wittkowski and D Föll

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O30

Content type: Oral presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P28

Content type: Poster presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P26

Content type: Poster presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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NLRP1 mutations cause autoinflammatory diseases in human

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O22

Content type: Oral presentation Published on: 28 September 2015

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

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O20

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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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

This article is part of a Supplement: Volume 13 Supplement 1
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Whole exome sequencing in systemic juvenile idiopathic arthritis

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O2

Content type: Oral presentation Published on: 28 September 2015

This article is part of a Supplement: Volume 13 Supplement 1
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