Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France von Cuisset, L, Jeru, I, Dumont, B, Fabre, A, Cochet, E, Le Bozec, J, Delpech, M, Amselem, S, Touitou, I

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The regulation of MEFV expression and its role in health and familial Mediterranean fever von Grandemange, S, Aksentijevich, I, Jeru, I, Gul, A, Touitou, I

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Mutations in NALP12 cause hereditary periodic fever syndromes von Jéru, I, Duquesnoy, P, Fernandes-Alnemri, T, Cochet, E, Yu, J.W, Lackmy-Port-Lis, M, Grimprel, E, Landman-Parker, J, Hentgen, V, Marlin, S, McElreavey, K, Sarkisian, T, Grateau, G, Alnemri, E.S, Amselem, S

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Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) von Mosbah, H, Donadille, B, Vatier, C, Janmaat, S, Atlan, M, Badens, C, Barat, P, Béliard, S, Beltrand, J, Ben Yaou, R, Bismuth, E, Boccara, F, Cariou, B, Chaouat, M, Charriot, G, Christin-Maitre, S, De Kerdanet, M, Delemer, B, Disse, E, Dubois, N, Eymard, B, Fève, B, Lascols, O, Mathurin, P, Nobécourt, E, Poujol-Robert, A, Prevost, G, Richard, P, Sellam, J, Tauveron, I, Treboz, D, Vergès, B, Vermot-Desroches, V, Wahbi, K, Jéru, I, Vantyghem, M C, Vigouroux, C

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Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation von Canouï, E, Maigné, G, Jéru, I, Amselem, S, Koné-Paut, I, Lambotte, O

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Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failure von STOJANOVIC, Katia Stankovic, DELMAS, Yahsou, TORRES, Pablo Urena, PELTIER, Julie, PELLE, Gaëlle, JERU, Isabelle, COLOMBAT, Magali, GRATEAU, Gilles

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VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France von Yaou, R. Ben, Anselme, F., De Sande-Giovannoli, A., Campanna-Salort, E., Charron, P., Chikhaoui, C., Jeru, I., Labombarda, F., Leturcq, F., Quijano-Roy, S., Stalens, C., Richard, P., Vigouroux, C., Bonne, G., Wahbi, K.

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Inflammasome and interleukin 1 von Jéru, I, Amselem, S

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Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner... von Cazeneuve, C, Papin, S, Jéru, I, Duquesnoy, P, Amselem, S

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The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65 von Papin, Stéphanie, Cazeneuve, Cécile, Duquesnoy, Philippe, Jéru, Isabelle, Sahali, Djillali, Amselem, Serge

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Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network von Mosbah, Héléna, Vantyghem, Marie‐Christine, Nobécourt, Estelle, Andreelli, Fabrizio, Archambeaud, Francoise, Bismuth, Elise, Briet, Claire, Cartigny, Maryse, Chevalier, Benjamin, Donadille, Bruno, Daguenel, Anne, Fichet, Mathilde, Gautier, Jean‐François, Janmaat, Sonja, Jéru, Isabelle, Legagneur, Carole, Leguier, Lysiane, Maitre, Julie, Mongeois, Elise, Poitou, Christine, Renard, Eric, Reznik, Yves, Spiteri, Anne, Travert, Florence, Vergès, Bruno, Zammouri, Jamila, Vigouroux, Corinne, Vatier, Camille

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PW01-032 – FMF-like state: genetic factors unrelated to MEFV von Babikyan, D, Jeru, I, Copin, B, Hayrapetyan, H, Amselem, S, Sarkisian, T

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A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features von Jñru, I, Van Eyck, L, Lagou, V, Ruuth-Praz, J, Copin, B, Cochet, E, Liston, A, Goris, A, Amselem, S, Wouters, C

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PW01-022 – Dissociation between CRP and SAA in FMF von Stojanovic, K Stankovic, Hentgen, V, Georgin-Lavialle, S, Fellahi, S, Jeru, I, Amselem, S, Bastard, J-P, Grateau, G

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Rationale and efficacy of interleukin-1 targeting in pediatric Erdheim- Chester disease von Tran, TA, Lecron, JC, Pariente, D, Jéru, I, Delwail, A, Kone-Paut, I, Meinzer, U

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Diabète lipodystrophique, infertilité et mortalité prématurée : expression phénotypique familiale d’un variant hétérozygote du gène ZMPSTE24 von Kamand, E., Dupuis, H., Defrance, F., Vigouroux, C., Vambergue, A., Jeru, I., Vantyghem, M.C.

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P.172 - Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations von Masingue, M., Vatier, C., Jéru, I., Latour, P., Jardel, C., Laforêt, P., Eymard, B., Vigouroux, C., Stojkovic, T.

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Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations von Masingue, M., Vatier, C., Jéru, I., Latour, P., Jardel, C., Laforêt, P., Eymard, B., Vigouroux, C., Stojkovic, T.

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Leptin, adiponectin, lipodystrophic and severe insulin resistance syndromes von Vatier, Camille, Jéru, Isabelle, Fellahi, Soraya, Capeau, Jacqueline, Bastard, Jean-Philippe, Vigouroux, Corinne

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PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation von Jéru, I., Hayrapetyan, H., Duquesnoy, P., Sarkisian, T., Amselem, S.

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