Combined Immunodeficiency
Gene: DOCK8

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Well-established gene-disease association; over 20 unrelated individuals with 30 unique DOCK8 variants identified; multiple mouse models.

DOCK8 variants include frameshift, nonsense, splicing, indel variants along with large deletions leading to truncated protein and LOF.

Patients typically presented with recurrent cutaneous infections, increased serum IgE levels, and severe atopic disease.
Created: 27 Jul 2021, 1:52 a.m. | Last Modified: 27 Jul 2021, 1:52 a.m.

Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis

Publications

Created: 27 Jul 2021, 1:52 a.m.
Last Modified: 27 Jul 2021, 1:52 a.m.
Panel version: 0.232

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700
T cell Lymphopaenia
decraese T/B/NK cells
Eosinophilia
low IgM
elevated IgE
recurrent cutaneous/ viral/ bacterial/ fungal/ infections
severe atopy/allergic disease
autoimmune haemolytic anaemia
eczema
cancer diathesis

OMIM

611432

Clinvar variants

Variants in DOCK8

Penetrance

None

Publications

Panels with this gene