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);
Origin ID : 2126467634;
Currated CISMeF NLP mapping
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT
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.