Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • 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: 32

    [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: 317

    [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: 111

    [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: 23

    [doi:10.1136/annrheumdis-2018-213725]

  • Vanoni F, Caorsi R, Aeby S, Cochard M, Anton-Lopez J, Berg S, Brik R, Dolezalova P, Koné-Paut I, Neven B, Ozen S, Pillet P, Stojanov S, Wouters C, Gattorno M and Hofer M.

    Towards a new set of classification criteria for PFAPA syndrome

    PEDIATRIC RHEUMATOLOGY . 16: 60-60. Number of citations: 35

    [doi:10.1186/s12969-018-0277-2]

  • Armangue-Salvador T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart-Lopez J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J and Spanish Herpes Simplex Encephalitis Study Group.

    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    LANCET NEUROLOGY . 17(9): 760-772. Number of citations: 426

    [doi:10.1016/S1474-4422(18)30244-8]

  • Esteve-Solé A, Sánchez-Dávila SP, Deyà-Martinez A, Freeman AF, Zelazny AM, Dekker JP, Khil PP, Holland SM, Noguera-Julián A, Bustamante J, Casanova JL, Juan M, Cordova W and Alsina L.

    Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rß1-Deficient Peruvian Girl

    JOURNAL OF CLINICAL IMMUNOLOGY . 38(6): 712-716. Number of citations: 9

    [doi:10.1007/s10875-018-0535-6]

  • Koné-Paut I, Cimaz R, Herberg J, Bates O, Carbasse A, Saulnier JP, Maggio MC, Anton-Lopez J and Piram M.

    The use of interleukin 1 receptor antagonist (anakinra) in Kawasaki disease: A retrospective cases series

    AUTOIMMUNITY REVIEWS . 17(8): 768-774. Number of citations: 83

    [doi:10.1016/j.autrev.2018.01.024]

  • Astigarraga I, Gonzalez-Granado LI, Allende LM and Alsina L.

    Haemophagocytic syndromes: The importance of early diagnosis and treatment

    ANALES DE PEDIATRIA . 89(2): . Number of citations: 17

    [doi:10.1016/j.anpedi.2018.05.003]