X-linked Lymphoproliferative Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive condition caused by mutation(s) in the SH2D1A gene, encoding SH2 domain-containing protein 1A. It is characterized by a susceptibility to severe EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytosis, and/or lymphoma.

**Synonyms:** - IMD5 - Immunodeficiency 5 - SH2D1A deficiency/XLP1 - X-linked lymphoproliferative disease 1 - XLP1 - XLP1/SAP