X-linked lymphoproliferative disease due to XIAP deficiency: genes and variants
X-linked lymphoproliferative disease due to XIAP deficiency is linked to 1 analyzed protein (XIAP). 3 DNA variants are known to cause it; 105 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to X-linked lymphoproliferative disease due to XIAP deficiency
XIAP: E3 ubiquitin-protein ligase XIAP
It directly restrains caspases and also participates in innate immune signaling, thereby controlling apoptosis and inflammatory responses. Loss-of-function variants cause X-linked lymphoproliferative syndrome type 2, with hemophagocytic lymphohistiocytosis, inflammatory bowel disease, and recurrent hyperinflammation.
3 disease-causing and 105 uncertain variants in XIAP are linked to X-linked lymphoproliferative disease due to XIAP deficiency.
Known disease-causing variants in X-linked lymphoproliferative disease due to XIAP deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| XIAP I494N | 494 | Required for ubiquitination and subsequent degra | Disease-causing (★) |
| XIAP C203Y | 203 | BIR 2 | Disease-causing |
| XIAP L189P | 189 | BIR 2 | Disease-causing |
Diseases related to X-linked lymphoproliferative disease due to XIAP deficiency
- Autoinflammatory syndrome, also linked to XIAP
Frequently asked questions
Which genes are linked to X-linked lymphoproliferative disease due to XIAP deficiency?
In CATVariant, X-linked lymphoproliferative disease due to XIAP deficiency is linked to 1 analyzed protein: XIAP (E3 ubiquitin-protein ligase XIAP).
How many genetic variants are linked to X-linked lymphoproliferative disease due to XIAP deficiency?
125 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 105 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked lymphoproliferative disease due to XIAP deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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