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

Content type: Oral presentation

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Authors: A Standing, D Eleftheriou, C Paisan-Ruiz, D Rowcenzio, Y Hong, E Omoyinmi, P Woo, P Hawkins, H Lachmann, N Klein and P Brogan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O1

Published on: 28 September 2015
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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

Published on: 28 September 2015
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Role of RNH1 in the regulation of RNase H2 function

Authors: B Kind, F Schmidt, S Kretschmer, A Shevchenko and MA Lee-Kirsch

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O3

Published on: 28 September 2015
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Generation of inducible immortalized bone marrow derived cell lines expressing mutant procaspase-1 C284A on a caspase-1 knock-out background

Authors: F Kapplusch, F Kulling, S Reinke, M Heymann, S Russ, A Gocht, K Höhne, S Winkler, A Rösen-Wolff, K Anastassiadis and S Hofmann

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O4

Published on: 28 September 2015
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Colchicine trial in PFAPA Syndrome and MEFV-negative patients

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):O5

Published on: 28 September 2015
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Functional analysis of macrophages in Behçet's disease

Authors: H Nakano, Y Kirino, K Higashitani, M Takeno, A Ueda and Y Ishigatsubo

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O6

Published on: 28 September 2015
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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Authors: J Van Montfrans, E Hartman, K Braun, F Hennekam, A Hak, P Nederkoorn, W Westendorp, R Bredius, W Kollen, E Scholvinck, G Legger, I Meyts, A Liston, K Lichtenbelt, J Giltay, G Van Haaften…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O7

Published on: 28 September 2015
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The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry

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

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O8

Published on: 28 September 2015
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Differential expression of miR-4520a is associated with gain of function mutations in Familial Mediterranean Fever (FMF)

Authors: H Latsoudis, MF Mashreghi, J Gruen, H-D Chang, B Stuhlmueller, A Repa, I Gergiannaki, E Kabouraki, P Papakosta, T Haeupl, A Radbruch, P Sidiropoulos, D Kardassis, D Boumpas and G Goulielmos

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O10

Published on: 28 September 2015
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Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

Authors: YH Park, D Kastner and JJ Chae

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O11

Published on: 28 September 2015
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Familial Mediterranean Fever in childhood: a single center experience

Authors: K Barut, AB Sinoplu, G Yucel, G Pamuk, A Adrovic, S Sahin and O Kasapcopur

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O12

Published on: 28 September 2015
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Investigation of the inflammatory cell migration process in familial Mediterranean fever

Authors: YZ Akkaya Ulum, E Avci, ED Batu, O Karadag, S Ozen, N Purali, E Yilmaz and B Balci Peynircioglu

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O13

Published on: 28 September 2015
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Molecular modeling of complete tertiary structure of pyrin and influence of mutations on it

Authors: G Arakelov and K Nazaryan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O14

Published on: 28 September 2015
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First report of MEFV duplication in FMF patient

Authors: G Sarrabay, D Méchin, B Dumont, M André and I Touitou

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O15

Published on: 28 September 2015
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Endothelial biomarkers in patients with familial Mediterranean fever associated vascular disease and vasculopathy

Authors: Y Sargsyan and A Sargsyan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O16

Published on: 28 September 2015
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NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

Authors: G Sarrabay, G Tachon, D Mechin and I Touitou

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O17

Published on: 28 September 2015
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Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation

Authors: A Standing, D Malinova, J Record, D Moulding, M Blundell, K Nowak, H Jones, E Omoyinmi, S Nanthapisal, S Melo Gomes, Y Hong, N Klein, D Eleftheriou, A Thrasher and P Brogan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O19

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

Published on: 28 September 2015
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Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)

Authors: K Barron, A Ombrello, D Stone, P Hoffmann, I Aksentijevich, Q Zhou, A Jones and D Kastner

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O21

Published on: 28 September 2015
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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

Published on: 28 September 2015
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Pediatric Rheumatology

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

Meeting abstracts

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

Whole exome sequencing in systemic juvenile idiopathic arthritis

Role of RNH1 in the regulation of RNase H2 function

Generation of inducible immortalized bone marrow derived cell lines expressing mutant procaspase-1 C284A on a caspase-1 knock-out background

Colchicine trial in PFAPA Syndrome and MEFV-negative patients

Functional analysis of macrophages in Behçet's disease

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

The phenotypic variability of PAPA syndrome: evidence from the Eurofever Registry

Differential expression of miR-4520a is associated with gain of function mutations in Familial Mediterranean Fever (FMF)

Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

Familial Mediterranean Fever in childhood: a single center experience

Investigation of the inflammatory cell migration process in familial Mediterranean fever

Molecular modeling of complete tertiary structure of pyrin and influence of mutations on it

First report of MEFV duplication in FMF patient

Endothelial biomarkers in patients with familial Mediterranean fever associated vascular disease and vasculopathy

NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation

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

Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)

NLRP1 mutations cause autoinflammatory diseases in human

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