" /> X-linked lymphoproliferative disease - CISMeF





Preferred Label : X-linked lymphoproliferative disease;

ICD-11 definition : X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). Infection with the Epstein-Barr virus can result in one or several of the following manifestations: fulminant infectious mononucleosis, macrophage-activation syndrome or hemophagocytic lymphohistiocytosis (HLH; see this term), and/or progressive hypogammaglobulinemia and/or lymphomas.;

ICD-11 synonym : Immunodeficiency following hereditary defective response to Epstein-Barr virus; immunodeficient hereditary defective response to Epstein Barr virus; Purtilo syndrome;

ICD-11 inclusion : fatal Epstein Barr virus syndrome; x-linked lymphoproliferation disease; x-linked lymphoproliferative disease or disorder; XLPS - [x-linked lymphoproliferative syndrome]; XIAP deficiency (XLP2); x-linked lymphoproliferative syndrome; SH2D1A deficiency (XLP1);

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X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). Infection with the Epstein-Barr virus can result in one or several of the following manifestations: fulminant infectious mononucleosis, macrophage-activation syndrome or hemophagocytic lymphohistiocytosis (HLH; see this term), and/or progressive hypogammaglobulinemia and/or lymphomas.

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29/05/2025


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