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

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Severe macrophage activation syndrome. Is there a causative role for a homozygous A91V mutation in the perforin gene?

Authors: H Girschick, R Rossi, U Kölsch, S Ammann, P Lohse, H Morbach, H von Bernuth and S Ehl

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P20

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In search of human proteins and infectious triggers involved in periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Authors: K Chisholm, A Bhatt, S Freemman, F Duke, R Fuhlbrigge, M Kenna, G Licameli, M Meyerson, S Vargas and F Dedeoglu

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P21

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The patient experience of Colchicine Resistant-Familial Mediterranean Fever (cr-FMF)

Authors: P Dandekar, J Gregson, R Campbell and F Bourhis

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P22

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Living with Tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS)

Authors: P Dandekar, J Gregson, R Campbell and F Bianic

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P23

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Hyper Immunoglobulin D syndrome (HIDS): understanding what it is like to live with this rare condition

Authors: P Dandekar, J Gregson, R Campbell and F Bourhis

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P24

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Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency

Authors: J Jeyaratnam, N ter Haar, H Lachmann, A Simon, P Brogan, M Doglio, M Cattalini, J Anton, C Modesto, P Quartier, J Frenkel and M Gattorno

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P25

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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

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Variant CAPS in an adult- the use of genetics

Authors: M Rozenbam, D Rimar, L Kaly, G Slobodin, A Awisat and I Rosner

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P27

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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

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Development of the autoinflammatory disease damage index (ADDI)

Authors: K Annink, N ter Haar, M Gattorno, H Lachmann, J Kuemmerle-Deschner, S Ozen, R Goldbach-Mansky, K Durrant, O Della Casa Alberighi and J Frenkel

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P29

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A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

Authors: N Volker-Touw, H de Koning, T van Kempen, K Oberndorff, M van Steensel, J Giltay, M Boes, C de Kovel, A Simon, J Frenkel and M van Gijn

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P30

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A large family having Muckle Wells Syndrome

Authors: SS Kilic and S Cekic

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P31

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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

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Characterisation of human iPS cells harbouring the p.A329T variant of caspase-1

Authors: J Thiem and A Rösen-Wolff

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P33

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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

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Diagnostics of CAPS in Quebec thanks to teaching program

Authors: A-L Chetaille, A Albert, K Adams, P Fortin and L Michou

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P35

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Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

Authors: E Ruiz-Ortiz, E Gonzalez-Roca, A Mensa-Vilaro, J Rius, S Plaza, C Anton, I Calvo, C Modesto, J Anton, C Arnal, C Alvarez, J Alvarez-Coca, E Becerra, N Bilbao, M Camacho, J Crespo…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P36

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Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

Authors: D Rowczenio, S Melo Gomes, J Aróstegui, E Omoyinmi, E Gonzalez-Roca, A Standing, D Eleftheriou, N Klein, P Brogan, H Lachmann and P Hawkins

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P37

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Clinical symptoms and molecular investigations in 13 patients with Schnitzler syndrome identified at the single UK centre

Authors: D Rowczenio, H Trojer, A Baginska, J Gillmore, A Wechalekar, P Hawkins and H Lachmann

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P38

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Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?

Authors: C Rittore, E Sanchez, S Soler, V Ea, D Genevieve, I Touitou and S Grandemange

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P39

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The clinical phenotype of Israeli patients with Q703K mutation in the NLRP3 gene

Authors: M Lidar, A Livneh, I Ben Zvi, R Cohen, Y Berkun, P Hashkes, H Peleg, A Kessel, R Almog, L Kali, G Slobodin, M Rozenbaum and Y Shinar

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P42

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Atypical clinical presentation of a severe Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) without mutation in the TNFRSF1A gene and good response to anakinra. Case report of a ten year old girl with fever, skin edema and abdominal pain (AID-registry)

Authors: F Hamsen, C Müntjes, W Kampmann, B Schweiger, U Neudorf and E Lainka

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P43

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A 56 year old woman with clinically significant p.Arg121Gln-/R92Q TNFRSF1A mutation

Authors: I von Mühlenen and B Claviezel

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P44

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Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

Authors: S Melo Gomes, J Arostegui, E Omoyinmi, A Standing, N Klein, H Lachmann, P Hawkins and P Brogan

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P45

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Impact of hereditary periodic fever syndromes and its change over time

Authors: M Niewerth, T Kallinich, A Hospach, R Behrendes, A Thon and K Minden

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P46

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NLRP3 Q703K and TNFRSF1A R92Q mutations in a patient with auto inflammatory disease

Authors: I von Mühlenen, C Gabay, A Finckh and J Kuemmerle-Deschner

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P47

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Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency

Authors: Y Shinar, PJ Hashkes, R Cohen, A Kessel, I Tirosh, S Padeh, J Arostegui and A Livneh

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P48

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Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study

Authors: JS Hausmann, C Biggs and F Dedeoglu

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P49

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Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Authors: MG Elferink, P van Zon, J Frenkel, W Harts, A Simon, A van Royen-Kerkhof, J Swart, H-K Ploos van Amstel and M van Gijn

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P51

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Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)

Authors: FR Lepri, E Pisaneschi, D Minervino, V Messia, M Pardeo, F de Benedetti and A Insalaco

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P52

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Chronic recurrent multifocal osteomyelitis (CRMO): typical patterns of bone involvement on MRI with particular emphasis on Whole Body MRI (WBMRI)

Authors: L Tanturri de Horatio, I Casazza, S Savelli, M Pardeo, V Messia, D Barbuti, P Tomà, F de Benedetti and A Insalaco

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P53

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A case of systemic juvenile idiopathic arthritis with pulmonary hemosiderosis secondary to recurrent macrophage activation syndrome or a new autoinflammatory syndrome?

Authors: K Barut, V Sen, A Adrovic, AB Sinoplu and O Kasapcopur

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P54

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Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)

Authors: D Konukbay, D Yildiz, C Acikel, B Sozeri, B Makay, NA Ayaz, K Barut, A Kisaarslan, Y Bilginer, H Peru, O Erdogan, E Unsal, O Kasapcopur, Z Gunduz, A Ravelli, I Kone-Paut…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P55

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Role of polymorphonucleates in the pathogenesis of systemic juvenile idiopathic arthritis and Still's disease: a proof of concept study

Authors: F Magnotti, OM Lucherini, C De Clemente, R Talarico, G Emmi, M Galeazzi, R Cimaz and L Cantarini

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P56

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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

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Whole-Body MRI versus bone scintigraphy: which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?

Authors: MF Villani, L Tanturri de Horatio, MC Garganese, I Casazza, S Savelli, M Pardeo, V Messia, F De Benedetti and A Insalaco

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P58

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NOD2 mosaicism in Blau syndrome

Authors: A Mensa-Vilaro, J De Inocencio, W Tarng Cham, E Gonzalez-Roca, P Tejada-Palacios, S Ping Tang, E Ruiz-Ortiz, E Enriquez-Merayo, S Chin Lim, G Magri, S Plaza, MC Anton, A Cerutti, R Ariffin, J Yagüe and JI Arostegui

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P59

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Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism

Authors: A Mensa-Vilaro, MT Bosque-Peralta, E Gonzalez-Roca, M Casorran-Berges, C Delgado-Beltran, S Plaza, MC Anton, E Ruiz-Ortiz, J Yagüe and JI Arostegui

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P60

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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

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A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

Authors: ED Batu, O Karadag, EZ Taskiran, U Kalyoncu, I Aksentijevich, M Alikasifoglu and S Ozen

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P62

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Interleukin (IL)- 6 inhibition - Follow-up data of the German AID-registry¹

Authors: M Bielak, E Husmann, N Weyandt, JP Haas, G Horneff, T Lutz, E Lilienthal, T Kallinich, K Tenbrock, R Berendes, G Dückers, H Wittkowski, E Weißbarth-Riedel, G Heubner, PT Oommen, J Klotsche…

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P63

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CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

Authors: B Erer, E Remmers, M Takeuchi, D Ustek, I Tugal-Tutkun, E Seyahi, Y Ozyazgan, A Gul, M Ombrello and D Kastner

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P64

Content type: Poster presentation Published on: 28 September 2015
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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

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Atypical manifestations in CAPS sydrome: not so unfrequent?

Authors: S Buján-Rivas, M Basagaña-Torrentó, C Modesto-Caballero, JI Aróstegui-Gorospe, M Vilardell-Tarrès and J Yagüe

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P66

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A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features

Authors: I Jéru, L Van Eyck, V Lagou, J Ruuth-Praz, B Copin, E Cochet, A Liston, A Goris, S Amselem and C Wouters

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P68

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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
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Enlarging the clinical spectrum of SAVI syndrome

Authors: R Caorsi, G Rice, S Volpi, F Cardinale, A Buoncompagni, Y Crow, A Martini, M Gattorno and P Picco

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P70

Content type: Poster presentation Published on: 28 September 2015
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Familial Mediterranean Fever and Human autoinflammatory diseases

Authors: L Hovhannisyan

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

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The IL-1 inhibitor Canakinumab for Familial Mediterranean Fever: the Greek experience in 12 patients

Authors: K Laskari, P Boura, GN Dalekos, A Garyfallos, D Karokis, D Pikazis, L Settas, G Skarantavos, E Tsitsami and PP Sfikakis

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P72

Content type: Poster presentation Published on: 28 September 2015
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Toll like receptor 2 is overexpressed in FMF patients during attacks and inhibited by colchicine treatment

Authors: H Ben-David, V Hornung, T Ebert, A Livneh and I Ben-Zvi

Citation: Pediatric Rheumatology 2015 13(Suppl 1):P74

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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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