Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Ravelli A, Consolaro A, Horneff G, Laxer RM, Lovell DJ, Wulffraat NM, Akikusa JD, Al-Mayouf SM, Anton-Lopez J, Avcin T, Berard RA, Beresford MW, Burgos-Vargas R, Cimaz R, De Benedetti F, Demirkaya E, Foell D, Itoh Y, Lahdenne P, Morgan EM, Quartier P, Ruperto N, Russo R, Saad-Magalhães C, Sawhney S, Scott C, Shenoi S, Swart JF, Uziel Y, Vastert SJ and Smolen JS.

    Treating juvenile idiopathic arthritis to target: recommendations of an international task force

    ANNALS OF THE RHEUMATIC DISEASES . 77(6): 819-828. Number of citations: 210

    [doi:10.1136/annrheumdis-2018-213030]

  • Martos-Moreno GA, Calzada-Hernández J, Couce ML and Argente J.

    Hypophosphatasia: clinical manifestations, diagnostic recommendations and therapeutic options

    ANALES DE PEDIATRIA . 88(6): 356-356. Number of citations: 13

    [doi:10.1016/j.anpedi.2017.06.004]

  • De Benedetti F, Gattorno M, Anton-Lopez J, Ben-Chetrit E, Frenkel J, Hoffman HM, Koné-Paut I, Lachmann HJ, Ozen S, Simon A, Zeft A, Calvo Penades I, Moutschen M, Quartier P, Kasapcopur O, Shcherbina A, Hofer M, Hashkes PJ, Van der Hilst J, Hara R, Bujan-Rivas S, Constantin T, Gul A, Livneh A, Brogan P, Cattalini M, Obici L, Lheritier K, Speziale A and Junge G.

    Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

    NEW ENGLAND JOURNAL OF MEDICINE . 378(20): 1908-1919. Number of citations: 295

    [doi:10.1056/NEJMoa1706314]

  • de Valles-Ibáñez G, Esteve-Solé A, Piquer-Gibert M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martín AM, Deyà-Martinez A, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe-Ribes J, Alsina L, Juan M and Casals F.

    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

    FRONTIERS IN IMMUNOLOGY . 9: 636-636. Number of citations: 110

    [doi:10.3389/fimmu.2018.00636]

  • Vanoni F, Federici S, Anton-Lopez J, Barron KS, Brogan P, De Benedetti F, Dedeoglu F, Demirkaya E, Hentgen V, Kallinich T, Laxer R, Russo R, Toplak N, Uziel Y, Martini A, Ruperto N, Gattorno M, Hofer M and for Eurofever and the Paediatric Rheumatology International Trials Organisation.

    An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA)

    PEDIATRIC RHEUMATOLOGY . 16: 27-27. Number of citations: 19

    [doi:10.1186/s12969-018-0246-9]

  • de Inocencio J, Anton-Lopez J, Calvo Penades I, Mesa Del Castillo Bermejo P, Alcobendas R, Boteanu AL, Bou-Torrent R, Iglesias-Jimenez E, González Fernandez MI, López Montesinos B, Santin-Riba P, Alcañiz Rodriguez P, Lorente Sanchez MJ, Consolaro A, Bovis F, Ruperto N and Paediatric Rheumatology International Trials Organisation (PRINTO).

    The Castilian Spanish version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

    RHEUMATOLOGY INTERNATIONAL . 38: 91-98.

    [doi:10.1007/s00296-018-3976-6]

  • Kuemmerle-Deschner JB, Hansmann S, Wulffraat NM, Vastert SJ, Hens K, Anton-Lopez J, Avcin T, Martini A, Koné-Paut I, Uziel Y, Ravelli A, Wouters C, Shaw D, Özen S, Eikelberg A, Prakken BJ, Ruperto N, Horneff G, Constantin T, Beresford MW, Sikken M, Foster HE, Haug I, Schuller S, Jägle C and Benseler SM.

    Recommendations for collaborative paediatric research including biobanking in Europe: a Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative.

    ANNALS OF THE RHEUMATIC DISEASES . 77(3): 319-327.

    [doi:10.1136/annrheumdis-2017-211904]

  • Sarens IL, Casteels I, Anton-Lopez J, Bader-Meunier B, Brissaud P, Chédeville G, Cimaz R, Dick AD, Espada G, Fernandez-Martin J, Guly CM, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Modesto C, Naranjo A, Oliveira-Knupp S, Özen S, Pajot C, Ramanan AV, Russo R, Susic G, Thatayatikom A, Thomée C, Vastert S, Bertin J, Arostegui JI, Rose CD and Wouters CH.

    Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series

    AMERICAN JOURNAL OF OPHTHALMOLOGY . 187: 158-166. Number of citations: 47

    [doi:10.1016/j.ajo.2017.08.017]

  • Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martinez A, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L and Bustamante J.

    Laboratory evaluation of the IFN-? circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 55(3): 184-204. Number of citations: 33

    [doi:10.1080/10408363.2018.1444580]

  • Alsina L, Mohr A, Montañés M, Oliver X, Martín E, Pons J, Drewe E, Papke J, Günther G, Chee R, Gompels M and investigators of the Flebogamma DIF PASS Study Group.

    Surveillance study on the tolerability and safety of Flebogamma® DIF (10% and 5% intravenous immunoglobulin) in adult and pediatric patients

    pharmacology research & perspectives . 5(5): . Number of citations: 8

    [doi:10.1002/prp2.345]