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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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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Blau Syndrome–Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series von Sarens, Inge L., Casteels, Ingele, Anton, Jordi, Bader-Meunier, Brigitte, Brissaud, Philippe, Chédeville, Gaelle, Cimaz, Rolando, Dick, Andrew D., Espada, Graciella, Fernandez-Martin, Jorge, Guly, Catherine M., Hachulla, Eric, Harjacek, Miroslav, Khubchandani, Raju, Mackensen, Friederike, Merino, Rosa, Modesto, Consuelo, Naranjo, Antonio, Oliveira-Knupp, Sheila, Özen, Seza, Pajot, Christine, Ramanan, Athimalaipet V., Russo, Ricardo, Susic, Gordana, Thatayatikom, Akaluck, Thomée, Caroline, Vastert, Sebastiaan, Bertin, John, Arostegui, Juan I., Rose, Carlos D., Wouters, Carine H.

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Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism von Mensa-Vilaro, A, Bosque-Peralta, MT, Gonzalez-Roca, E, Casorran-Berges, M, Delgado-Beltran, C, Plaza, S, Anton, MC, Ruiz-Ortiz, E, Yagüe, J, Arostegui, JI

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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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mTOR intersects antibody-inducing signals from TACI in marginal zone B cells von Sintes, Jordi, Gentile, Maurizio, Zhang, Shuling, Garcia-Carmona, Yolanda, Magri, Giuliana, Cassis, Linda, Segura-Garzón, Daniel, Ciociola, Alessandra, Grasset, Emilie K., Bascones, Sabrina, Comerma, Laura, Pybus, Marc, Lligé, David, Puga, Irene, Gutzeit, Cindy, He, Bing, DuBois, Wendy, Crespo, Marta, Pascual, Julio, Mensa, Anna, Aróstegui, Juan Ignacio, Juan, Manel, Yagüe, Jordi, Serrano, Sergi, Lloreta, Josep, Meffre, Eric, Hahne, Michael, Cunningham-Rundles, Charlotte, Mock, Beverly A., Cerutti, Andrea

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Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency von Ruiz-Ortiz, E, Gonzalez-Roca, E, Mensa-Vilaro, A, Rius, J, Plaza, S, Anton, C, Calvo, I, Modesto, C, Anton, J, Arnal, C, Alvarez, C, Alvarez-Coca, J, Becerra, E, Bilbao, N, Camacho, M, Crespo, J, de Diego, C, Diez-Garcia, LF, Espinosa, L, Garcia-Escriva, D, de Gracia, F, Gonzalez, MI, Iglesias, E, Izquierdo, S, Lastra, B, Llobet, P, Lopez, B, Lopez-Gonzalez, V, Martinez, R, Martin-Mateos, MA, Merino, R, Ortega, L, Peiro, ME, de Soto, I Perez, Perez-Mendez, C, Rodriguez-Valverde, V, Ribes, A, Ruiz, A, Sanchez, B, Santos, JL, Sevilla, B, Sotoca, J, Vilas, J, Villoria, A, Yagüe, J, Arostegui, JI

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Crohn's disease patients carrying Nod2/CARD15 gene variants have an increased and early need for first surgery due to stricturing disease and higher rate of surgical recurrence von ALVAREZ-LOBOS, Manuel, AROSTEGUI, Juan I, SANS, Miquel, TASSIES, Dolors, PLAZA, Susana, DELGADO, Salvadora, LACY, Antonio M, PIQUE, Josep M, YAGÜE, Jordi, PANES, Julian

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Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS) von Ramos, E., Aróstegui, J. I., Campuzano, S., Rius, J., Bousoño, C., Yagüe, J.

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Effect of NOD2/CARD15 variants in T-cell depleted allogeneic stem cell transplantation von Granell, M, Urbano-Ispizua, A, Arostegui, JI, Fernandez-Aviles, F, Martinez, C, Rovira, M, Rius, J, Plaza, S, Gaya, A, Navarro, A, Talarn, C, Carreras, E, Monzo, M, Montserrat, E, Yague, J

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THU0554 Final Analysis of Study of Efficacy and Safety of Canakinumab in Active Hyper-IGD Syndrome von Arόstegui, J.I., Anton, J., Calvo, I., Robles, A., Speziale, A., Joubert, Y., Junge, G., Yagüe, J.

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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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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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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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Familial CD8 deficiency due to a mutation in the CD8 alpha gene von de la Calle-Martin, O, Hernandez, M, Ordi, J, Casamitjana, N, Arostegui, J I, Caragol, I, Ferrando, M, Labrador, M, Rodriguez-Sanchez, J L, Espanol, T

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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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A severe autosomal‐dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual... von Aldea, Anna, Campistol, Josep M., Arostegui, Juan I., Rius, Josefa, Maso, Montserrat, Vives, Jordi, Yagüe, Jordi

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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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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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