Conditions / Immune
X-linked lymphoproliferative syndrome 2
info · Immune · ICD-10: D82.3
A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome
A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
Signs and symptoms
- Fever
- Splenomegaly
- Hepatitis
- Hypertriglyceridemia
- Hypofibrinogenemia
- Increased circulating ferritin concentration
- Decreased circulating immunoglobulin concentration
- Inflammation of the large intestine
- Colitis
- Recurrent skin infections
Also known as: XIAP deficiency; XLP2