Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Mariño-Sánchez F, Valls-Mateus M, de Los Santos G, Plaza-Martín AM, Cobeta I and Mullol J.

    Multimorbidities of Pediatric Allergic Rhinitis

    CURRENT ALLERGY AND ASTHMA REPORTS . 19(2): 13-13. Number of citations: 19

    [doi:10.1007/s11882-019-0843-9]

  • Mensa-Vilaró A, Bravo M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Bravo Gallego LY, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E and Aróstegui JI.

    Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 143(1): 359-368. Number of citations: 57

    [doi:10.1016/j.jaci.2018.09.009]

  • Navallas M, Inarejos E, Iglesias-Jimenez E, Rebollo M, Anton-Lopez J and Navarro OM.

    Connective Tissue Disorders in Childhood: Are They All the Same?

    RADIOGRAPHICS . 39(1): 229-250. Number of citations: 8

    [doi:10.1148/rg.2019180078]

  • Swart J, Giancane G, Horneff G, Magnusson B, Hofer M, Alexeeva E, Panaviene V, Bader-Meunier B, Anton-Lopez J, Nielsen S, De Benedetti F, Kamphuis S, Stanevica V, Tracahana M, Ailioaie LM, Tsitsami E, Klein A, Minden K, Foeldvari I, Haas JP, Klotsche J, Horne AC, Consolaro A, Bovis F, Bagnasco F, Pistorio A, Martini A, Wulffraat N, Ruperto N and Paediatric Rheumatology International Trials Organisation (PRINTO), BiKeR and th.

    Pharmacovigilance in juvenile idiopathic arthritis patients treated with biologic or synthetic drugs: combined data of more than 15,000 patients from Pharmachild and national registries.

    ARTHRITIS RESEARCH & THERAPY . 20(1): 285-285. Number of citations: 70

    [doi:10.1186/s13075-018-1780-z]

  • Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat NM, Horneff G, Kasapcopur O, Schneider R, Anton-Lopez J, Barash J, Berner R, Corona F, Cuttica R, Fouillet-Desjonqueres M, Fischbach M, Foster HE, Foell D, Radominski SC, Ramanan AV, Trauzeddel R, Unsal E, Levy J, Vritzali E, Martini A and Lovell DJ.

    Canakinumab in patients with systemic juvenile idiopathic arthritis and active systemic features: results from the 5-year long-term extension of the phase III pivotal trials.

    ANNALS OF THE RHEUMATIC DISEASES . 77(12): 1710-1719. Number of citations: 72

    [doi:10.1136/annrheumdis-2018-213150]

  • Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    HUMAN MUTATION . 39(12): 1752-1763. Number of citations: 30

    [doi:10.1002/humu.23638]

  • Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom D, Lucena JM, Seidl M, Schmitt-Gräff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Schmid JP, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila T, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O and Grimbacher B.

    Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 142(6): 1932-1946. Number of citations: 299

    [doi:10.1016/j.jaci.2018.02.055]

  • Marrani E, Foeldvari I, Anton-Lopez J, Cimaz R and Simonini G.

    Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma: Evidence from systematic review and meta-analysis approach

    SEMINARS IN ARTHRITIS AND RHEUMATISM . 48(3): 495-503. Number of citations: 18

    [doi:10.1016/j.semarthrit.2018.03.003]

  • Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N and Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs.

    Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

    ANNALS OF THE RHEUMATIC DISEASES . 77(11): 1558-1565. Number of citations: 109

    [doi:10.1136/annrheumdis-2017-212515]

  • Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton-Lopez J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M and Frenkel J.

    In silico validation of the Autoinflammatory Disease Damage Index

    ANNALS OF THE RHEUMATIC DISEASES . 77(11): 1599-1605. Number of citations: 22

    [doi:10.1136/annrheumdis-2018-213725]