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A kindred with mutant IKAROS and autoimmunity
ArticleAbstract:Palabras claves:Autores:Claessens F., Dooley J., Frietze S., Gijsbers R., Helsen C., Humblet-Baron S., Josselyn E. Garcia-Perez, Liston A., Meyts I., Rodriguez P.D., Schjerven H., Schlenner S.M., van der Burg M., Van Nieuwenhove E., van Schouwenburg P.A., Verhoeyen E., Wouters C.H.Fuentes:scopusCytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency
ArticleAbstract: Background: Severe combined immunodeficiency can be caused by loss-of-function mutations in genes inPalabras claves:Artemis, cytotoxic T-lymphocyte-associated protein 4, immune dysregulation, Leaky severe combined immunodeficiency, regulatory T cellAutores:Baron F., Humblet-Baron S., Josselyn E. Garcia-Perez, Liston A., Pasciuto E., Schönefeldt S.Fuentes:scopusAbnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
ArticleAbstract: Background: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplaPalabras claves:B cells, Platelets, RNA processing, Roifman syndromeAutores:Casteels I., Collin R., De Zegher F., Freson K., Greene D., Heremans J., Humblet-Baron S., Josselyn E. Garcia-Perez, Lesage S., Liston A., Matthys P., Meyts I., Penkett C.J., Put K., Schlenner S.M., Stirrups K., Thys C., Turro E., Van Geet C., Van Nieuwenhove E., Wouters C.H.Fuentes:scopus