Immunodeficiency 11b with atopic dermatitis: genes and variants
Immunodeficiency 11b with atopic dermatitis is linked to 1 analyzed protein (CARD11). 5 DNA variants are known to cause it; 19 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 11b with atopic dermatitis
CARD11: Caspase recruitment domain-containing protein 11
It assembles the CARD11-BCL10-MALT1 signaling complex after antigen-receptor activation, allowing lymphocytes to activate NF-kappaB and related pathways. Gain-of-function variants cause lymphoproliferative disease, while loss-of-function or dominant-negative variants can cause immunodeficiency or severe atopy.
5 disease-causing and 19 uncertain variants in CARD11 are linked to Immunodeficiency 11b with atopic dermatitis.
Where Immunodeficiency 11b with atopic dermatitis variants cluster
- CARD11 CARD (positions 18–110): 3 of 5 disease-causing changes, 7.5× more than its size predicts.
Known disease-causing variants in Immunodeficiency 11b with atopic dermatitis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CARD11 R30W | 30 | CARD | Disease-causing (★★) |
| CARD11 G126D | 126 | Linker | Disease-causing (★) |
| CARD11 T43R | 43 | CARD | Disease-causing |
| CARD11 S775L | 775 | Disease-causing | |
| CARD11 R72L | 72 | CARD | Disease-causing |
Same protein, different disease
- BENTA disease is also caused by CARD11 variants; they fall partly in the same places as the Immunodeficiency 11b with atopic dermatitis variants (8 disease-causing).
- Severe combined immunodeficiency due to CARD11 deficiency is also caused by CARD11 variants; they fall mostly in different places as the Immunodeficiency 11b with atopic dermatitis variants (6 disease-causing).
Diseases related to Immunodeficiency 11b with atopic dermatitis
- BENTA disease, also linked to CARD11
- Severe combined immunodeficiency due to CARD11 deficiency, also linked to CARD11
Frequently asked questions
Which genes are linked to Immunodeficiency 11b with atopic dermatitis?
In CATVariant, Immunodeficiency 11b with atopic dermatitis is linked to 1 analyzed protein: CARD11 (Caspase recruitment domain-containing protein 11).
How many genetic variants are linked to Immunodeficiency 11b with atopic dermatitis?
32 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 19 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunodeficiency 11b with atopic dermatitis 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center