Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Berrueco R, González E, Deyà-Martinez A, Solsona M, García-García AP, Calzada-Hernández J, Luo Y, Vlagea A, Ruiz-Llobet A and Alsina L.

    Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity

    Frontiers in pediatrics . 11: 1174671-1174671. Number of citations: 1

    [doi:10.3389/fped.2023.1174671]

  • Armangue-Salvador T, Olivé-Cirera G, Martínez-Hernandez E, Rodes M, Peris-Sempere V, Guasp M, Ruiz R, Palou E, González A, Marcos MÁ, Erro ME, Bataller L, Corral-Corral Í, Planagumà J, Caballero E, Vlagea A, Chen J, Bastard P, Materna M, Marchal A, Abel L, Cobat A, Alsina L, Fortuny-Guasch C, Saiz A, Mignot E, Vanderver A, Casanova JL, Zhang SY and Dalmau J.

    Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies.

    BRAIN . 146(10): 4306-4319. Number of citations: 6

    [doi:10.1093/brain/awad238]

  • Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Anton-Lopez J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L and Hernández-Rodríguez J.

    Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY . 41(10): 2105-2114.

    [doi:10.55563/clinexprheumatol/ukegcc]

  • Gerritsma AM, Sutera D, Cantarini L, Cattalini M, Lachmann HJ, Minden K, Jansson AF, Touitou I, Bustaffa M, Anton-Lopez J, Insalaco A, Moreno E, Sanchez-Manubens J, Ruperto N, Frenkel J and Gattorno M.

    TNFRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY . 41(10): 1998-2007.

    [doi:10.55563/clinexprheumatol/am4phc]

  • Klotsche, J, Torok, KS, Kasapcopur, O, Adrovic, A, Terreri, MT, Sakamoto, AP, Katsicas, M, Sztajnbok, F, Marrani, E, Sifuentes-Giraldo, A, Stanevicha, V, Anton-Lopez J, Feldmann, B, Kostik, M, Nemcova, D, Santos, MJ, Appenzeller, S, Avcin, T, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Eleftheriou, D, Harel, L, Horneff, G, Kallinich, T, Minden, K, Nielsen, S, Patwardhan, A, Helmus, N and Foeldvari, I.

    Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis

    Journal of Scleroderma and Related Disorders . 8(3): 183-191.

    [doi:10.1177/23971983231164700]

  • Clemente Garulo D, Núñez-Cuadros E, Camacho Lovillo M, Calzada-Hernández J, Guillén Martín S, Fernández Silveira L, Lirola Cruz MJ, Tagarro A, Alcobendas Rueda RM, López López A, Satrustegi Aritziturri M and Calvo C.

    Position statement on infection screening, prophylaxis, and vaccination in pediatric patients with rheumatic diseases and immunosuppressive therapies, part 2: infection prophylaxis

    EUROPEAN JOURNAL OF PEDIATRICS . 182(9): 4271-4284.

    [doi:10.1007/s00431-023-05080-3]

  • Casado E, Gómez-Alonso C, Pintos-Morell G, Bou-Torrent R, Barreda-Bonis AC, Torregrosa JV, Broseta-Monzó JJ, Pedro Arango Sancho, Chocrón-de-Benzaquen S, Olmedilla-Ishishi Y and Soler-López B.

    Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

    ORPHANET JOURNAL OF RARE DISEASES . 18(1): 245-245.

    [doi:10.1186/s13023-023-02856-6]

  • Ramanan AV, Quartier P, Okamoto N, Foeldvari I, Spindler A, Fingerhutová Š, Anton-Lopez J, Wang Z, Meszaros G, Araújo J, Liao R, Keller S, Brunner HI and Ruperto N.

    Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial.

    Lancet . 402(10401): 555-570. Number of citations: 7

    [doi:10.1016/S0140-6736(23)00921-2]

  • Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias-Jimenez E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Anton-Lopez J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L and Boztug K.

    Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

    NEW ENGLAND JOURNAL OF MEDICINE . 389(6): 527-539. Number of citations: 3

    [doi:10.1056/NEJMoa2210054]

  • Bethencourt-Baute JJ, Montero N, Zacarias A, Nieto JC, López-Corbeto M, Boteanu A, Medrano M, Díaz-Cordovés Rego G, Vargas-Lebron C, Machín-García S, Expósito L, Cacheda AP, Bernabeu P, Veroz-González R, Fernández O, Enriquez Merayo E, Torrente V, Fernández-Alba MD, Gamir ML, López-Robledillo JC, Anton-Lopez J, Otero L and Bustabad S.

    Juvenile idiopathic arthritis in the young adult. Methodology, objectives, and initial data from the JUVENSER registry.

    reumatologia clinica . 19(6): 328-333.

    [doi:10.1016/j.reumae.2023.01.003]