Combined immunodeficiency due to DOCK8 deficiency: genes and variants
Combined immunodeficiency due to DOCK8 deficiency is linked to 1 analyzed protein (DOCK8). 1 DNA variants are known to cause it; 742 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 Combined immunodeficiency due to DOCK8 deficiency
DOCK8: Dedicator of cytokinesis protein 8
It coordinates actin remodeling and signaling required for migration, survival, and immune synapse formation in lymphocytes. Biallelic loss-of-function variants cause DOCK8 deficiency, a combined immunodeficiency characterized by severe viral infections, allergy, eczema, and malignancy risk.
1 disease-causing and 742 uncertain variants in DOCK8 are linked to Combined immunodeficiency due to DOCK8 deficiency.
Known disease-causing variants in Combined immunodeficiency due to DOCK8 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DOCK8 K473R | 473 | Disease-causing (★★) |
Diseases related to Combined immunodeficiency due to DOCK8 deficiency
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant, also linked to DOCK8
- Severe combined immunodeficiency disease, also linked to DOCK8
- Inherited Immunodeficiency Diseases, also linked to DOCK8
Frequently asked questions
Which genes are linked to Combined immunodeficiency due to DOCK8 deficiency?
In CATVariant, Combined immunodeficiency due to DOCK8 deficiency is linked to 1 analyzed protein: DOCK8 (Dedicator of cytokinesis protein 8).
How many genetic variants are linked to Combined immunodeficiency due to DOCK8 deficiency?
799 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 742 are of uncertain significance or have conflicting reports.
Which uncertain variants in Combined immunodeficiency due to DOCK8 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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