Immunodeficiency due to CD25 deficiency: genes and variants
Immunodeficiency due to CD25 deficiency is linked to 1 analyzed protein (IL2RA). 2 DNA variants are known to cause it; 102 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 Immunodeficiency due to CD25 deficiency
IL2RA: Interleukin-2 receptor subunit alpha
It contributes to the high-affinity IL-2 receptor on activated T cells and regulatory T cells, supporting lymphocyte proliferation and immune tolerance. Loss-of-function variants can cause immunodeficiency with autoimmunity, while abnormal expression is therapeutically targeted in selected immune disorders.
2 disease-causing and 102 uncertain variants in IL2RA are linked to Immunodeficiency due to CD25 deficiency.
Known disease-causing variants in Immunodeficiency due to CD25 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IL2RA Y41S | 41 | Sushi 1 | Disease-causing |
| IL2RA S166N | 166 | Sushi 2 | Disease-causing |
Diseases related to Immunodeficiency due to CD25 deficiency
- Type 1 diabetes mellitus, also linked to IL2RA
- Renal cell carcinoma, also linked to IL2RA
Frequently asked questions
Which genes are linked to Immunodeficiency due to CD25 deficiency?
In CATVariant, Immunodeficiency due to CD25 deficiency is linked to 1 analyzed protein: IL2RA (Interleukin-2 receptor subunit alpha).
How many genetic variants are linked to Immunodeficiency due to CD25 deficiency?
110 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 102 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunodeficiency due to CD25 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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