Alt. symbols: API3 | BIRC4 | hILP | ILP-1

Approved name: X-linked inhibitor of apoptosis
Alt. names: baculoviral IAP repeat-containing 4, X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase | IAP-like protein 1

Location: Xq25: 123859712 - 123913972 (+)
Gene type: protein_coding, 11 transcripts.

Scores: LoFtool: 0.245000 | pLI: 0.97927839 | LOEUF: 0.374

HGNC: 592

NCBI: 331, RefSeq: NG_007264.1

Ensembl: ENSG00000101966.14

LRG_19 | Status: public

OMIM: 300079

Expression | ProteinAtlas

Lymphoproliferative syndrome, X-linked, 2 [MIM:300635]. Mutations in XIAP cause Lymphoproliferative syndrome, X-linked, 2 (OMIM: 300635). XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; 191160), and general dysregulation of the immune pathway, such as increased levels of IL18 (600953). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015). [Load More]