Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Tappeiner C, Mesquida M, Adán A, Anton-Lopez J, Ramanan AV, Carreno E, Mackensen F, Kotaniemi K, de Boer JH, Bou-Torrent R, García de Vicuña-Muñoz C and Heiligenhaus A.

    Evidence for Tocilizumab as a Treatment Option in Refractory Uveitis Associated with Juvenile Idiopathic Arthritis

    JOURNAL OF RHEUMATOLOGY . 43(12): 2183-2188. Number of citations: 73

    [doi:10.3899/jrheum.160231]

  • Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton-Lopez J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M and Paediatric Rheumatology International Trials Organisation and Eurofever Project.

    The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

    ARTHRITIS & RHEUMATOLOGY . 68(11): 2795-2805. Number of citations: 137

    [doi:10.1002/art.39763]

  • Cabral DA, Canter DL, Muscal E, Nanda K, Wahezi DM, Spalding SJ, Twilt M, Benseler SM, Campillo S, Charuvanij S, Dancey P, Eberhard BA, Elder ME, Hersh A, Higgins GC, Huber AM, Khubchandani R, Kim S, Klein-Gitelman M, Kostik MM, Lawson EF, Lee T, Lubieniecka JM, McCurdy D, Moorthy LN, Morishita KA, Nielsen SM, O'Neil KM, Reiff A, Ristic G, Robinson AB, Sarmiento A, Shenoi S, Toth MB, Van Mater HA, Wagner-Weiner L, Weiss JE, White AJ, Yeung RS and ARChiVe Investigators Network within the PedVas Initiative.

    Comparing Presenting Clinical Features in 48 Children With Microscopic Polyangiitis to 183 Children Who Have Granulomatosis With Polyangiitis (Wegener's): An ARChiVe Cohort Study.

    ARTHRITIS & RHEUMATOLOGY . 68(10): 2514-2526. Number of citations: 75

    [doi:10.1002/art.39729]

  • Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A and de Vries E.

    Primary immunodeficiency associated with chromosomal aberration - an ESID survey

    ORPHANET JOURNAL OF RARE DISEASES . 11: 110-110. Number of citations: 15

    [doi:10.1186/s13023-016-0492-1]

  • De Paepe B, Martin JJ, Herbelet S, Jimenez-Mallebrera C, Iglesias-Jimenez E, Jou-Munoz C, Weis J and De Bleecker JL.

    Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

    LABORATORY INVESTIGATION . 96(8): 872-884. Number of citations: 12

    [doi:10.1038/labinvest.2016.68]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Number of citations: 6

    [doi:10.1371/journal.pone.0158863]

  • Pascal M, Vázquez-Ortiz M, Folqué-Giménez MM, Jiménez-Feijoo R, Lozano-Blasco J, Domínguez-Sánchez O, Piquer-Gibert M, Giner MT, Alvaro-Lozano M, Dias-Da Costa M, García-Paba B, Machinena A, Alsina L, Yagüe J and Plaza-Martín AM.

    Asymptomatic LIP sensitisation is common in plant-food allergic children from the Northeast of Spain

    ALLERGOLOGIA ET IMMUNOPATHOLOGIA . 44(4): 351-358. Number of citations: 27

    [doi:10.1016/j.aller.2015.10.003]

  • Sánchez-Manubens J, Anton-Lopez J, Bou-Torrent R, Iglesias-Jimenez E, Calzada-Hernández J, Borlan S, Gimenez-Roca C and Rivera J.

    Role of the Egami score to predict immunoglobulin resistance in Kawasaki disease among a Western Mediterranean population

    RHEUMATOLOGY INTERNATIONAL . 36(7): 905-910. Number of citations: 26

    [doi:10.1007/s00296-016-3499-y]

  • Koné-Paut I, Shahram F, Darce-Bello M, Cantarini L, Cimaz R, Gattorno M, Anton-Lopez J, Hofer M, Chkirate B, Bouayed K, Tugal-Tutkun I, Kuemmerle-Deschner J, Agostini H, Federici S, Arnoux A, Piedvache C, Ozen S and PEDBD group.

    Consensus classification criteria for paediatric Behcet's disease from a prospective observational cohort: PEDBD

    ANNALS OF THE RHEUMATIC DISEASES . 75(6): 958-964. Number of citations: 148

    [doi:10.1136/annrheumdis-2015-208491]

  • Calvo Campoverde K, Gean Molins E, Piquer-Gibert M, Martinez Valdez L, Deyà-Martinez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza-Martín AM and Alsina L.

    Humoral deficiency in three paediatric patients with genetic diseases

    ALLERGOLOGIA ET IMMUNOPATHOLOGIA . 44(3): 257-262. Number of citations: 4

    [doi:10.1016/j.aller.2015.07.007]