Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Correia Marques M, Rubin D, Shuldiner EG, Datta M, Schmitz E, Gutierrez Cruz G, Patt A, Bennett E, Grom A, Foell D, Gattorno M, Bohnsack J, Yeung RSM, Prahalad S, Mellins E, Anton-Lopez J, Len CA, Oliveira S, Woo P, Ozen S, Deng Z and Ombrello MJ.

    Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.

    ARTHRITIS & RHEUMATOLOGY . 76(10): 1566-1572.

    [doi:10.1002/art.42938]

  • Marshall DA, Gerber B, Currie GR, Anton-Lopez J, De Somer L, Dey M, Egert T, Egert Y, Henan L, Klotsche J, Martinez-Mifsut L, Minden K, Normand C, Porte D, Saurenmann RK, Swart JF, Uziel Y, Wilson J, Wouters C, Ziv A and Benseler SM.

    Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium).

    PEDIATRIC RHEUMATOLOGY . 22(1): 74-74.

    [doi:10.1186/s12969-024-01012-z]

  • Carriqui S, Mosquera-Angarita JM, Quesada-Masachs E, López M, Clemente D, Boteanu A, Udaondo C, de Inocencio J, Nieto JC, Riancho L, Núñez E, Sánchez-Manubens J, Lirola MJ, Roldán R, Camacho M, Martínez M, Medrano M, Alcañiz P, Anton-Lopez J and Iglesias-Jimenez E.

    Clinical characteristics and prognostic factor in juvenile dermatomyositis: data of the Spanish registry

    PEDIATRIC RHEUMATOLOGY . 22(1): 66-66. Number of citations: 1

    [doi:10.1186/s12969-024-00999-9]

  • Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale DC, Deyà-Martinez A, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T and Donadieu J.

    A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

    Blood . 144(1): 35-45. Number of citations: 10

    [doi:10.1182/blood.2023022658]

  • Del Prado-Sanchez C, Llorca-Cardeñosa A, Yeste-Mayoral B, Grixolli-Mazzon S, Barros-Centeno MF, Días-Cascajosa J, Anton-Lopez J, Calzada-Hernández J, Mosquera-Angarita JM, Carriqui S, Zacarias A and Morales-Ballús M.

    Optical coherence tomography for the screening of anterior chamber inflammation in paediatric patients diagnosed with juvenile idiopathic arthritis

    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY . 42(7): 1507-1512.

    [doi:10.55563/clinexprheumatol/t7pn4v]

  • Pluma A, Alsina L, Moreno E, Touriño R, Casellas M and Grados D.

    Development of a care protocol in pregnancy and chronic inflammatory arthritis, in a multidisciplinary work group.

    reumatologia clinica . 20(6): 320-325.

    [doi:10.1016/j.reumae.2024.03.001]

  • Brunner HI, Schulert GS, Sproles A, Thornton S, Cornejo GV, Anton-Lopez J, Cuttica R, Henrickson M, Foeldvari I, Kingsbury DJ, Askelson M, Liu J, Mukherjee S, Wong RL, Lovell DJ, Martini A, Ruperto N and Grom AA.

    S100 proteins as potential predictive biomarkers of abatacept response in polyarticular juvenile idiopathic arthritis.

    ARTHRITIS RESEARCH & THERAPY . 26(1): 125-125. Number of citations: 1

    [doi:10.1186/s13075-024-03347-0]

  • Sagastizabal B, Calvo I, Martínez-Ferrer À, Clancy J, Pérez Á, Gil A and Bou-Torrent R.

    Current situation of osteogenesis imperfecta in Spain: results from a Delphi study.

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 239-239.

    [doi:10.1186/s13023-024-03248-0]

  • Vyzhga Y, Frenkel J, Insalaco A, Anton-Lopez J, Koné-Paut I, Legger GE, Fabio G, Cattalini M, Kamphuis S, Hachulla E, Krause K, Ekinci Z, Sanchez-Manubens J, Van den Berg JM, Mora CH, Brinkman D, Labrador E, Potjewijd J, Carlini L, Bustaffa M, Caorsi R, Ruperto N and Gattorno M.

    Monitoring of Adverse Events and Safety in Autoinflammatory Diseases: Real-Life Data from the Eurofever Registry

    JOURNAL OF CLINICAL IMMUNOLOGY . 44(5): 119-119.

    [doi:10.1007/s10875-024-01719-4]

  • Vyzhga Y, Wittkowski H, Hentgen V, Georgin-Lavialle S, Theodoropoulou A, Fuehner S, Jesenak M, Frenkel J, Papadopoulou-Alataki E, Anton-Lopez J, Olivieri AN, Brunner J, Sanchez J, Koné-Paut I, Fingerhutova S, Pillet P, Meinzer U, Khubchandani R, Jansson A, Haas JP, Berendes R, Kallinich T, Horneff G, Lilienthal E, Papa R, Foell D, Lainka E, Caorsi R, Gattorno M and Hofer M.

    Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

    PEDIATRIC RHEUMATOLOGY . 22(1): 55-55. Number of citations: 1

    [doi:10.1186/s12969-024-00987-z]