Volume 11 Supplement 1

7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Meeting abstracts

Publication of this supplement has been funded by the International congress on autoinflammatory disease (ISSAID) 2013. Abstracts are based on presentations made at the conference from ISSAID 2013.

7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID). Go to conference site.

Lausanne, Switzerland22-26 May 2013

Concatenated PDF 11S1

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PW02-011 - Favorable response to anakinra in aisle patients

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A151

Content type: Meeting abstract Published on: 8 November 2013
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PW02-012 - First clinical description of an infant with DITRA

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A152

Content type: Meeting abstract Published on: 8 November 2013
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PW02-013 - The role of IL6 and LPS in pathogenesis of TRAPS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A153

Content type: Meeting abstract Published on: 8 November 2013
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PW02-014 - Long term outcome and quality of life in TRAPS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A154

Content type: Meeting abstract Published on: 8 November 2013
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PW02-015 - Eight years HPFS experience in a single UK centre

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A155

Content type: Meeting abstract Published on: 8 November 2013
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PW02-016 - 41 cases of TRAPS, a rare autoinflammatory disease

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A156

Content type: Meeting abstract Published on: 8 November 2013
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PW02-017 - New tools for the ISSAID society website

Authors: I Touitou and F Milhavet

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A157

Content type: Meeting abstract Published on: 8 November 2013
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PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

Authors: 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…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A158

Content type: Meeting abstract Published on: 8 November 2013
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PW02-019 - Inflammatory pathways activation in TRAPS patients

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A159

Content type: Meeting abstract Published on: 8 November 2013
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PW02-020 - Colitis revealing mevalonate kinase deficiency

Authors: L Michael, J Camille and BM Brigitte

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A160

Content type: Meeting abstract Published on: 8 November 2013
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PW02-021 - SAA1 is the strongest predictor of AA in TRAPS

Authors: 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 and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A161

Content type: Meeting abstract Published on: 8 November 2013
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PW02-022 - Recurrent fever syndromes: multiple gene mutations

Authors: 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 and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A162

Content type: Meeting abstract Published on: 8 November 2013
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PW02-023 - Qualitative aspects of autoinflammatory diseases

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A163

Content type: Meeting abstract Published on: 8 November 2013
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PW02-024 - A case of candle syndrome treated with thalidomide

Authors: K Yamazaki, T Miyamae and S Yokota

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A164

Content type: Meeting abstract Published on: 8 November 2013
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PW02-024-B - First report of AA amyloidosis in Blau syndrome

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A165

Content type: Meeting abstract Published on: 8 November 2013
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PW02-025 - Programme necrosis by CAPS-associated NLRP3

Authors: T Satoh, N Kambe and H Matsue

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A166

Content type: Meeting abstract Published on: 8 November 2013
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PW02-026 - Low frequency variants of NLRP3 in CAPS patients

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A167

Content type: Meeting abstract Published on: 8 November 2013
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PW02-027 - CAPS and cost-effectiveness analysis project

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A168

Content type: Meeting abstract Published on: 8 November 2013
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PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A169

Content type: Meeting abstract Published on: 8 November 2013
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PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A170

Content type: Meeting abstract Published on: 8 November 2013
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PW02-030 - Clinical phenotype in individuals with Q703K

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A171

Content type: Meeting abstract Published on: 8 November 2013
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PW02-031 - Genetic and clinical manifestations of CAPS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A172

Content type: Meeting abstract Published on: 8 November 2013
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PW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations

Authors: T Kümpfel, E Schuh, R Hohlfeld and P Lohse

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A173

Content type: Meeting abstract Published on: 8 November 2013
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PW02-033 - Cytokine profile in CSF in CAPS patients

Authors: E Schuh, P Lohse, M Frankenberger, I Meinl and T Kuempfel

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A174

Content type: Meeting abstract Published on: 8 November 2013
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PW02-034 - NLRP3 mosaicism detection in CAPS using NGS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A175

Content type: Meeting abstract Published on: 8 November 2013
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PW02-035 - A role for thermo-TRP channels in innate immunity?

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A176

Content type: Meeting abstract Published on: 8 November 2013
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PW02-036 - Thermosensitive CA2+ assay innate immune cells

Authors: T Remijn, M Stoffels, A Simon and JW van der Meer

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A177

Content type: Meeting abstract Published on: 8 November 2013
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PW02-037 - The Eurofever cohort of 136 patients with CAPS

Authors: 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…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A178

Content type: Meeting abstract Published on: 8 November 2013
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PW02-038 - Treatment-resistant NOMID with autoantibodies

Authors: L Broderick, J Chang, I Szer and HM Hoffman

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A179

Content type: Meeting abstract Published on: 8 November 2013
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PW02-039 - Long-term anakinra treatment in CAPS: a metaanalys

Authors: M Leinonen, B Hallén, M Aldén-Raboisson and H Olivecrona

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A180

Content type: Meeting abstract Published on: 8 November 2013
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PW02-040 - Low-penetrance NLRP3 variants

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A181

Content type: Meeting abstract Published on: 8 November 2013
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PW02-041 - Canakinumab treatment regimens in CAPS-patients

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A182

Content type: Meeting abstract Published on: 8 November 2013
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PW02-042 - Induction of MDSC in Muckle-Wells syndrome

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A183

Content type: Meeting abstract Published on: 8 November 2013
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OR9-001 - Exome sequencing in monogenic Behçet-like disease

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A184

Content type: Meeting abstract Published on: 8 November 2013
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OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A185

Content type: Meeting abstract Published on: 8 November 2013
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OR10-002 - A novel TNFR1 transcript of TRAPS gene

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A186

Content type: Meeting abstract Published on: 8 November 2013
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OR10-004 - Circulating micrornas in TRAPS

Authors: 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 and L Cantarini

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A187

Content type: Meeting abstract Published on: 8 November 2013
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OR10-005 - Treatment responses in TRAPS: Eurofever/ Eurotraps

Authors: 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 and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A188

Content type: Meeting abstract Published on: 8 November 2013
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OR10-006 - Canakinumab in patients with TRAPS

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A189

Content type: Meeting abstract Published on: 8 November 2013
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OR11-001 - Protein misfolding in mevalonate kinase deficiency

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A190

Content type: Meeting abstract Published on: 8 November 2013
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OR11-002 - Mutations in MVK cause non-syndromic RP

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A191

Content type: Meeting abstract Published on: 8 November 2013
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OR11-003 - The NLRP3 inflammasome is regulated by CaSR

Authors: JJ Chae, G-S Lee, N Subramanian and DL Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A192

Content type: Meeting abstract Published on: 8 November 2013
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OR11-004 - IL-1, IL-18 and cell death in NLRP3 driven disease

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A193

Content type: Meeting abstract Published on: 8 November 2013
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OR11-005 - Mast cells respond to pathogen signals with IL-1ß

Authors: L Kraas, O Schmetzer, K Krause, E Latz and M Maurer

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A194

Content type: Meeting abstract Published on: 8 November 2013
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OR11-006 - A mutation in NLRP1A causes autoinflammation

Authors: SL Masters, M Gerlic, BT Kile and BA Croker

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A195

Content type: Meeting abstract Published on: 8 November 2013
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P03-001 - PFAPA and MEFV genes

Authors: F Salehzadeh, M Vahedi, S Jahangiri and S Hosseiniasl

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A196

Content type: Meeting abstract Published on: 8 November 2013
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P03-002 - Different phenotypes associated with Q703K variant

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A197

Content type: Meeting abstract Published on: 8 November 2013
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P03-003 - Sacroilitis with propionibacterium acnes

Authors: C Galeotti and I Koné-Paut

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A198

Content type: Meeting abstract Published on: 8 November 2013
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P03-004 - Production of proinflammatory cytokines in PFAPA

Authors: A Kozlova, O Barabanova, N Davydova and A Shcherbina

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A199

Content type: Meeting abstract Published on: 8 November 2013
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P03-005 - MEFV heterozygous mutations in PFAPA patients

Authors: A Kozlova, O Barabanova, N Kuzmenko, N Zinovieva, O Molochnikova and A Shcherbina

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A200

Content type: Meeting abstract Published on: 8 November 2013
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7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Meeting abstracts

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Pediatric Rheumatology

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