Severe combined immunodeficiency due to IKK2 deficiency: genes and variants
Severe combined immunodeficiency due to IKK2 deficiency is linked to 1 analyzed protein (IKBKB). 1 DNA variants are known to cause it; 210 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 Severe combined immunodeficiency due to IKK2 deficiency
IKBKB: Inhibitor of nuclear factor kappa-B kinase subunit beta
It phosphorylates inhibitory I-kappaB proteins after immune-receptor activation, allowing NF-kappaB transcription factors to enter the nucleus and drive inflammatory and survival genes. Biallelic loss-of-function variants can cause severe combined immunodeficiency.
1 disease-causing and 210 uncertain variants in IKBKB are linked to Severe combined immunodeficiency due to IKK2 deficiency.
Known disease-causing variants in Severe combined immunodeficiency due to IKK2 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IKBKB V203I | 203 | Protein kinase | Disease-causing (★★) |
Frequently asked questions
Which genes are linked to Severe combined immunodeficiency due to IKK2 deficiency?
In CATVariant, Severe combined immunodeficiency due to IKK2 deficiency is linked to 1 analyzed protein: IKBKB (Inhibitor of nuclear factor kappa-B kinase subunit beta).
How many genetic variants are linked to Severe combined immunodeficiency due to IKK2 deficiency?
236 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 210 are of uncertain significance or have conflicting reports.
Which uncertain variants in Severe combined immunodeficiency due to IKK2 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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