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 1 of 6

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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Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants

Authors: L Raganelli, G Prencipe, V Messia, I Caiello, FR Lepri, E Pisaneschi, F De Benedetti and A Insalaco

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O23

Published on: 28 September 2015
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A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes

Authors: M Rusmini, S Federici, F Caroli, A Grossi, M Baldi, L Obici, A Insalaco, A Tommasini, R Caorsi, E Gallo, AN Olivieri, AV Marzano, D Coviello, R Ravazzolo, A Martini, M Gattorno…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O24

Published on: 28 September 2015
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Pathological and immunological features of autoinflammatory syndrome associated with lymphedema (AISLE)

Authors: A Gul, H Ozdogan, S Ugurlu, O Kasapcopur, N Buyukbabani, U Emekli, Z Emrence and D Ustek

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O25

Published on: 28 September 2015
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Severe peripheral blood lymphopenia without NK cell cytotoxicty deficiency is the rule in adult acquired HLH

Authors: J Carvelli, C Piperoglou, F Vely, C Farnarier, K Mazodier, J-R Harle, E Vivier and G Kaplanski

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O26

Published on: 28 September 2015
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A significant role for tumor necrosis factor in Nlrp3 inflammasomeopathies

Authors: M McGeough, A Wree, C Pena, M Inzaugarat, A Feldstein and H Hoffman

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O27

Published on: 28 September 2015
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Altered expression of IL-10 family cytokines in CRMO result in enhanced inflammasome activation

Authors: S Hofmann, A Kubasch, A Rösen-Wolff, H Girschick, H Morbach and C Hedrich

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O28

Published on: 28 September 2015
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Neutralization of Interferon-gamma is efficacious in a mouse model of HLH secondary to chronic inflammation

Authors: G Prencipe, I Caiello, C Bracaglia, C de Min and F De Benedetti

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O29

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

Published on: 28 September 2015
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Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE)

Authors: G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao, J Dare, S Schalm, R Merino, D Chapelle, H Kim, S Judd, M O'Brien, A Almeida De Jesus…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O31

Published on: 28 September 2015
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Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation

Authors: L Malle, B Marrero, Y Liu, G Montealegre, D Chapelle, H Kim, M O'Brien, S Hill, JR Fontana, S Ramsey, G Duckers, S Ozen, A Issekutz, H Wittkowski, D Foell, K Tenbrock…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O32

Published on: 28 September 2015
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Spontaneous Type I IFN response in SAMHD1-deficient mice requires both, functional intracellular RNA and DNA sensing pathways

Authors: R Behrendt, T Schumann, A Gerbaulet, S Wittmann, T Gramberg and A Roers

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O33

Published on: 28 September 2015
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Tracing cellular sources of pathogenic type I-interferon in the TREX1^-/- mouse model of lupus like-disease

Authors: K Peschke, K Frenzel, M Achleitner, M Kleefisch, A Gerbaulet, M Prinz, A Roers and R Behrendt

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O34

Published on: 28 September 2015
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Stratification of patients with autoinflammatory phenotypes by interferon (IFN) score suggests a new group of IFN mediated autoinflammatory diseases with overlapping clinical phenotypes

Authors: A Almeida de Jesus, Z Deng, S Brooks, H Kim, G Montealegre, D Chapelle, Y Liu, B Marrero, L Malle, M O'Brien, W Goodspeed, Y Huang, P Hashkes, G Nasrullayeva, MT Terreri, C Silva…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O35

Published on: 28 September 2015
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Neurology of the Cryopyrin-Associated Periodic Feversyndrome

Authors: T Parker, S Keddie, D Kidd, M Maviki, T Lane, P Hawkins, L Ginsberg and H Lachmann

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O36

Published on: 28 September 2015
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Novel mutation in NLRP3 Exon 7 results in sensorineural hearing loss without chronic inflammation

Authors: L Broderick, S Cherukumilli Grevich, C Putnam and H Hoffman

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O37

Published on: 28 September 2015
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Pharmacokinetics of Canakinumab in children younger than 2 years old with CAPS

Authors: J Kalabus, P Brogan, M Hofer, J Kuemmerle-Deschner, B Lauwerys, A Speziale, R Laxer, H Sun, K Abrams, K Leon and G Junge

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O38

Published on: 28 September 2015
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The deficiency of adenosine deaminase type 2-results of therapeutic intervention

Authors: A Ombrello, D Stone, P Hoffmann, A Jones, B Barham, K Barron, W Flegel, S Sheldon, Q Zhou, M Hershfield, I Aksentijevich, P Kumar and D Kastner

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O40

Published on: 28 September 2015
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Pulmonary hypertension in familial Mediterranean fever: consequence or coincidence?

Authors: A Sargsyan and M Narimanyan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O41

Published on: 28 September 2015
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Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration

Authors: D Rowczenio, D Iancu, H Trojer, J Gilbertson, J Gillmore, A Wechalekar, M Tekman, H Stanescu, R Kleta, T Lane, P Hawkins and H Lachmann

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O42

Published on: 28 September 2015
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Unified modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes

Authors: A Gul, Y Bozkurt, A Demir and B Erman

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O43

Published on: 28 September 2015
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Colchicine therapy in children with FMF

Authors: A-M Knieper, J Klotsche, D Föll, H Wittkowski, E Lainka and T Kallinich

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O44

Published on: 28 September 2015
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Canakinumab therapy in patients with Familial Mediterranean Fever

Authors: S Ugurlu, E Seyahi, G Hatemi, A Hacioglu, H Ozcan, FN Akkoc and H Ozdogan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O45

Published on: 28 September 2015
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Semaphorin 3A, a potential immune regulator in Familial Mediterranean Fever

Authors: D Rimar, I Rosner, G Slobodin, N Boulman, L Kaly, M Rozenbaum and Z Vadasz

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O46

Published on: 28 September 2015
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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

Published on: 28 September 2015
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Altered cytokine pattern and inflammatory pathways in monogenic and complex autoinflammatory diseases

Authors: P Galozzi, O Negm, P Sfriso, P Tighe, I Todd and L Punzi

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O48

Published on: 28 September 2015
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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

Published on: 28 September 2015
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A unifying molecular mechanism underlying the association of CARD14 alleles with autoinflammatory and T-cell mediated skin disorders

Authors: D Berki, S-E Choon, AD Burden, C Griffiths, C Smith, J Barker and F Capon

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O50

Published on: 28 September 2015
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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

Published on: 28 September 2015
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Cofilin-1 is an essential redox sensor for NLRP3 inflammasome activation

Authors: YH Park, D Kastner and JJ Chae

Citation: Pediatric Rheumatology 2015 13(Suppl 1):O52

Published on: 28 September 2015
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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

Published on: 28 September 2015
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8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Meeting abstracts

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Pediatric Rheumatology

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