X-Linked Lymphoproliferative Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked immunodeficiency syndrome that exclusively affects males, although females can be carriers. It is caused by mutation(s) in SH2D1A and/or XIAP genes and is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders.

**Synonyms:** - Duncan Disease - X-linked Lymphoproliferative Syndrome