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- databases for immunodeficiency-causing variations

   BIRC4base
   Variation registry for  X-linked lymphoproliferative syndrome


BIRC4base mutation publications

[2010] [2006]

Search PubMed latest citations for BIRC4 mutations

    2010

  • XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.
    Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH
    Blood 2010(7): 1079-82 [PubMed abstract].

  • Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
    Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Füllekrug J
    J Inherit Metab Dis 2010(): [PubMed abstract].

    2006

  • XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
    Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S
    Nature 2006(7115): 110-4 [PubMed abstract].