A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis von Arostegui, JI, Rabionet, R, Remesal, A, Mensa-Vilaro, A, Murias, S, Alcobendas, R, Gonzalez-Roca, E, Dreschsel, O, Ruiz-Ortiz, E, Puig, A, Comas, D, Ossowski, S, Yagüe, J, Estivill, X, Merino, R

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PW03-035 – Autoinflammatory diseases diagnostic chart/tool von Durrant, KL, Muscari, I, Aróstegui, JI

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Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study von Aróstegui, JI, Anton, J, Calvo, I, Robles, A, Speziale, A, Joubert, Y, Junge, G, Yagüe, J

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NOD2 mosaicism in Blau syndrome von Mensa-Vilaro, A, De Inocencio, J, Cham, W Tarng, Gonzalez-Roca, E, Tejada-Palacios, P, Tang, S Ping, Ruiz-Ortiz, E, Enriquez-Merayo, E, Lim, S Chin, Magri, G, Plaza, S, Anton, MC, Cerutti, A, Ariffin, R, Yagüe, J, Arostegui, JI

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PW02-024-B - First report of AA amyloidosis in Blau syndrome von Ruiz-Ortiz, E, Saurina, A, González-Roca, E, Solé, M, Modesto, C, Rius, F, Plaza, S, Yagüe, J, Aróstegui, JI

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Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype von Santos, J, Arostégui, JI, Brito, MJ, Neves, C, Conde, M

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Plasma Stromal Cell–Derived Factor (SDF)-1 Levels, SDF1-3′A Genotype, and Expression of CXCR4 on T Lymphocytes: Their Impact on Resistance to Human Immunodeficiency Virus Type 1 In... von Soriano, Alex, Martínez, Catalina, García, Felipe, Plana, Montserrat, Palou, Eduard, Lejeune, Marylène, Aróstegui, Juan I., De Lazzari, Elisa, Rodriguez, Carmen, Barrasa, Alicia, Lorenzo, José I., Alcamí, José, del Romero, Jorge, Miró, José M., Gatell, José M., Gallart, Teresa

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AB1195 Our experience with anakinra treatment in a tertiary centre von Murias, S., Remesal, A., Salido, C., Vacas, B., Mendez, A., Arostegui, J.I., Merino, R.

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Síndrome de Schnitzler: descripción de 3 casos von Rodríguez-Lobato, Luis Gerardo, Iranzo, Pilar, Aróstegui, Juan I, Fernández de Larrea, Carlos

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Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subcl... von AROSTEGUI, Juan I, SOLIS, Pilar, ALDEA, Anna, CANTERO, Teresa, RIUS, Josefa, BAHILLO, Pilar, PLAZA, Susana, VIVES, Jordi, GOMEZ, Samuel, YAGÜE, Jordi

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Assessing the digenic model in rare disorders using population sequencing data von Moreno-Ruiz, N, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Lao, O, Aróstegui, JI, Laayouni, H, Casals, F

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Polirradiculoneuritis, síndromes periódicos asociados a criopirina y fiebre mediterránea familiar von Nicolás-Sánchez, F.J, Piñol-Ripoll, G, Aróstegui-Gorospe, J.I, Grau-Junyent, J.M, Sarrat-Nuevo, R.M, Melgarejo Moreno, P.J

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OP0175 The eurofever registry for autoinflammatory disease: Update on enrollment after 2 years von Naselli, A., Frenkel, J., Ozen, S., Konè-Paut, I., Lachmann, H., Woo, P., De Benedetti, F., Hofer, M., Neven, B., Dolezalova, P., Kümmerle-Deschner, J., Hentgen, V., Touitou, I., Simon, A., Wouters, C., Toplak, N., Anton, J., Stojanov, S., Girschick, H., Vesely, R., Arostegui, J.I., Rose, C., Ozdogan, H., Ruperto, N., Martini, A., Gattorno, M.

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Varón de 37 años con episodios recurrentes de fiebre y dolor abdominal von Martínez-Valle, Fernando, Aróstegui, Juan Ignacio

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Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing von Gonzalez-Roca, E, Ruiz-Ortiz, E, Anton, MC, Plaza, S, Mensa-Vilaro, A, Yagüe, J, Arostegui, JI

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Dynamics of plasma cytokines in a patient with deficiency of interleukin‐36 receptor antagonist successfully treated with anakinra von Podlipnik, S., Morgado‐Carrasco, D., Fustà‐Novell, X., Mensa‐Vilaró, A., Arostegui, J.I., Alsina‐Gibert, M., Mascaró Jr, J.M.

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P02-021 - Atypical CAPS consequence of novel NLPR3 mutations von Gonzalez-Roca, E, Espinosa, G, Bartra, J, Ruiz-Ortiz, E, Rius, J, Plaza, S, Yague, J, Arostegui, JI

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Somatic NLRP3 mosaicism in Muckle-Wells syndrome von Gonzalez-Roca, E, Mensa-Vilaro, A, Plaza, S, Anton, MC, Rius, J, Ruiz-Ortiz, E, Campistol, JM, Souto, A, Cañellas, J, Nakagawa, K, Nishikomori, R, Yagüe, J, Arostegui, JI

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Combined type‐1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour von ALVAREZ‐LOBOS, M., AROSTEGUI, J. I., SANS, M., TASSIES, D., PIU, J., REVERTER, J. C., PIQUE, J. M., YAGÜE, J., PANÉS, J.

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PW02-007 - The Eurofever registry: 3 years of enrollment von Federici, S, Frenkel, J, Ozen, S, Jordi, A, Arostegui, JI, De Benedetti, F, Dolezalova, P, Girschick, H, Hentgen, V, Hofer, M, Lachmann, H, Koné-Paut, I, Kuemmerle-Deschner, J, Neven, B, Ozdogan, H, Rose, C, Simon, A, Stojanov, S, Toplak, N, Touitou, I, Vesely, R, Woo, P, Wouters, C, Ruperto, N, Martini, A, Gattorno, M

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