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

Page 3 of 6

OR6-006 – IL36RN alleles in skin auto-inflammation

Authors: 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 and J Barker

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A101

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-001 – By chip pyrin binds the IRF2 promoter

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A102

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-002 – Pyrin 577 mutations in dominant autoinflammation

Authors: 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 and JW van der Meer

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A103

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-003 – MEFV genotype, IL1B and role of NLRP3 in FMF

Authors: A Omenetti, S Carta, L Delfino, A Martini, M Gattorno and A Rubartelli

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A104

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-004 – Validation of AIDAI score

Authors: M Piram, I Koné-Paut, M Gattorno and N Ruperto

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A105

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-005 – Canakinumab in childhood colchicine resistant FMF

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A106

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
OR7-006 – Autophagy as a player in inflammation in TRAPS

Authors: 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 and I Ceccherini

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A107

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-001 – A novel TNFRSF1A mutation in periodic fever

Authors: E Erken, F Yıldız, D Arslan Taş and S Dinkci

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A108

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-002 - IL36RN mutations in patients with DITRA

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A109

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-003 - HIDS in a consanguineous family form Saudi Arabia?

Authors: Q Zhou, R Sleiman, DL Kastner and I Aksentijevich

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A110

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-004 - AIDs in a registry of children in North America

Authors: JS Hausmann, CM Biggs, D Goldsmith and F Dedeoglu

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A111

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-005 - Overlap of FMF and HIDS in one Arabic family

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A112

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A113

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-007 - Childhood autoinflammatory disorders in Qatar

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A114

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-008 - Dramatic response to canakinumab in MKD

Authors: B Makay and E Ünsal

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A115

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-009 - Candle syndrome: expanding spectrum

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A116

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-010 - A novel 24 nucleotide deletion in the TNFRSF1A

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A117

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-011 - TRAPS syndrome debuted as systemic JIA

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A118

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-012 - HAIDS in practice of Russian rheumatologist

Authors: E Fedorov, S Salugina and N Kuzmina

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A119

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-013 - TH17 cells and regulatory T cells in TRAPS

Authors: PM Vaitla, E Drewe, EM McDermott, I Todd and L Fairclough

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A120

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-014 - Consequences of Arginine 92 mutations in TNFR1

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A121

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-015 - A novel MVK mutation in a child with AA amyloid

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A122

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-016 - A novel PSMB8 mutation causing candle syndrome

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A123

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-017 - Periodic fever syndrome masquerading as eczema…

Authors: TV Nguyen, J Sugarman and K Leslie

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A124

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-018 - PSTPIP1 gene mutations in periodic fever patients

Authors: K Takabe, Y Adachi, H Saito, T Yamashita, Y Wakai, K Saito and Y Shinohara

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A125

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-019 - Detection of risk factors for AA-amyloidosis

Authors: S Németh, L Obici, S Grandemange, H Lachmann and C Oberkanins

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A126

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-020 - CAPS in Turkish children: treatment with ANTI IL1

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A127

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-021 - Atypical CAPS consequence of novel NLPR3 mutations

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A128

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-022 - Atypical cryopirin associated periodic syndrome

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A129

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS

Authors: Q Zhou, AK Ombrello, D Chin, DL Kastner and I Aksentijevich

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A130

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-024 - Clinical impact of V198M mutation in NLRP3 gene

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A131

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-025 - Homozygous Q705K sequence variant in NLRP3

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A132

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-026 - Model-based characterization of the PKPD relationship for canakinumab in CAPS: a step towards personalized

Authors: A Gautier, P Lowe, A Skerjanec, P McKernan, O Luttringer and M Fink

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A133

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-027 - Quality of life in CAPS treated by Canakinumab

Authors: C Marsaud, I Marie and I Koné-Paut

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A134

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-028 - Muckle-Wells syndrome and renal transplantation

Authors: B Kortus-Götze and J Hoyer

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A135

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-029 - CAPS or SJIA

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A136

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-030 - Unusual CNS manifestation

Authors: E Schuh, P Lohse, I Meinl and T Kümpfel

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A137

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-031 - Phenotype of V198M and Q703K NLRP3 variants

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A138

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-032 - CAPS: a novel mutation and an unusual phenotype

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A139

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
P02-033 - CAPS diagnosis and treatment in an Israeli family

Authors: Y Shinar, G Breuer, A Livneh and P Hashkes

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A140

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-001 - Exome sequencing for autoinflammatory disorders

Authors: SE Boyden, Q Zhou, I Aksentijevich and DL Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A141

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-002 - Single MVK mutation and recurrent fevers

Authors: K Barron, A Ombrello, D Goldsmith, I Aksentijevich, A Jones and D Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A142

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-003 - Efficacy of anakinra in etanercept-resistant TRAPS

Authors: AK Ombrello, PM Hoffmann, A Jones, KS Barron and DL Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A143

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-004 - Autoinflammatory syndromes: a clinical review

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A144

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-005 - A web registry of genotype-phenotype correlation

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A145

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-006 - PAPA syndrome clinical spectrum and IL1B release

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A146

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-007 - The Eurofever registry: 3 years of enrollment

Authors: 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…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A147

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-008 - TRAPS in the real world: an international registry

Authors: 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 and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A148

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-009 - PAPA syndrome: results from the Euroefever registry

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A149

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF
PW02-010 - The diagnostic challenge of bone lesions in AID

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

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A150

Content type: Meeting abstract Published on: 8 November 2013
- View Full Text
- View PDF

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

Meeting abstracts

Official journal of

Annual Journal Metrics

Pediatric Rheumatology

Contact us