X-linked Lymphoproliferative Syndrome 2

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked lymphoproliferative disorder caused by mutations in the XIAP gene. Clinical manifestations include hemophagocytic lymphohistiocytosis (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. Patients are at an increased risk of developing lymphoma, typically B-cell non-Hodgkin lymphoma.

**Synonyms:** - XIAP Deficiency - XIAP Deficiency/XLPs - XLP2 - XLP2/XIAP