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XIAP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

XIAP gene

The XIAP gene provides instructions for making a protein that protects cells from self-destructing by inhibiting specific enzymes.

Normal Function

The XIAP gene provides instructions for making a protein found in many types of cells, including immune cells. It helps protect these cells from self-destructing (undergoing apoptosis) by blocking (inhibiting) the action of certain enzymes called caspases, which are necessary for apoptosis. Specifically, the XIAP protein inhibits caspase enzymes 3, 7, and 9. The XIAP protein also plays a role in several other signaling pathways involved in various body functions.

Health Conditions Related to Genetic Changes

X-linked lymphoproliferative disease

XIAP gene mutations have been identified in some people with X-linked lymphoproliferative disease (XLP). These mutations reduce or eliminate production of the XIAP protein. While the exact mechanism is unknown, the lack of XIAP protein is associated with the signs and symptoms of XLP, including a proliferation of lymphocytes that destroys blood-forming cells and damages the liver and other organs (hemophagocytic lymphohistiocytosis).

Other Names for This Gene

  • API3
  • apoptosis inhibitor 3
  • baculoviral IAP repeat-containing protein 4
  • BIRC4
  • hILP
  • IAP-like protein, human
  • mammalian IAP homolog A
  • MIHA
  • X-linked inhibitor of apoptosis protein
  • X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
  • XIAP_HUMAN

Frequently Asked Questions

Patients often present with severe fevers, hepatosplenomegaly, cytopenias, and a hyperinflammatory state called hemophagocytic lymphohistiocytosis (HLH). Recurrent infections and liver dysfunction are common.
combination of clinical evaluation, flow cytometry for lymphocyte subsets, and a genetic test for XIAP mutations (Sanger or NGS) confirms the diagnosis. Functional assays measuring caspase inhibition can also support the result.
llogeneic hematopoietic stem‑cell transplantation is the definitive treatment and can cure the immune dysregulation. Timing is critical; early transplant before severe organ damage improves outcomes.
XIAP normally blocks caspases 3, 7, and 9, preventing unnecessary apoptosis. Without XIAP, immune cells may undergo uncontrolled death or fail to regulate inflammatory responses, leading to the lymphoproliferation and tissue damage seen in X‑LP.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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