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Combined immunodeficiency due to DOCK8 deficiency
1 OMIM reference -
1 associated gene
5 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive hyper-IgE syndrome
Adams-Oliver syndrome
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Synonym(s):
- CID due to DOCK8 deficiency
- Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
- DOCK8 immunodeficiency syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DOCK8 Q8NF50611432
Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Asthma / bronchospasm
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic / relapsing otitis
- Eczema
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Severe allergic reaction / atopy
- T-cell deficiency / cellular immunity deficiency
- Warts / papillomas

Occasional
- Neoplasms / tumors
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)