Ectodermal dysplasia and immunodeficiency 2: genes and variants
Ectodermal dysplasia and immunodeficiency 2 is linked to 1 analyzed protein (NFKBIA). 5 DNA variants are known to cause it; 121 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 Ectodermal dysplasia and immunodeficiency 2
NFKBIA: NF-kappa-B inhibitor alpha
It sequesters NF-kappaB transcription factors in the cytoplasm until immune or stress signals trigger its degradation. Dominant gain-of-function variants that resist degradation can cause severe immunodeficiency with ectodermal abnormalities.
5 disease-causing and 121 uncertain variants in NFKBIA are linked to Ectodermal dysplasia and immunodeficiency 2.
Where Ectodermal dysplasia and immunodeficiency 2 variants cluster
- NFKBIA Destruction motif (positions 30–36): 5 of 5 disease-causing changes, 45.3× more than its size predicts.
Known disease-causing variants in Ectodermal dysplasia and immunodeficiency 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NFKBIA S32N | 32 | Destruction motif | Disease-causing (★★) |
| NFKBIA S32I | 32 | Destruction motif | Disease-causing |
| NFKBIA S32R | 32 | Destruction motif | Disease-causing |
| NFKBIA S32G | 32 | Destruction motif | Disease-causing |
| NFKBIA S36Y | 36 | Destruction motif | Disease-causing |
Frequently asked questions
Which genes are linked to Ectodermal dysplasia and immunodeficiency 2?
In CATVariant, Ectodermal dysplasia and immunodeficiency 2 is linked to 1 analyzed protein: NFKBIA (NF-kappa-B inhibitor alpha).
How many genetic variants are linked to Ectodermal dysplasia and immunodeficiency 2?
153 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 121 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ectodermal dysplasia and immunodeficiency 2 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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