Features include always present findings: Decreased total T cell count, Chronic decreased circulating IgG2, Chronic oral candidiasis, and Recurrent otitis media and others; and common findings: Autoimmune hemolytic anemia and Failure to thrive. 15 total HPO annotations.

CD3G encodes CD3 gamma subunit of T-cell receptor complex (182 aa). Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. Highest expression in Spleen (8.9 TPM) and Small Intestine Terminal Ileum (5.3 TPM).

Combined immunodeficiency due to CD3gamma deficiency is caused by mutations in the CD3G gene on chromosome 11.

The CD3G protein participates in Cross-linking of FCGRIA with IgG-coated Ag pathway.

CD3G is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 1.0.

Genetic testing for CD3G is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined immunodeficiency due to CD3gamma deficiency has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 2 common features.

No clinical trials have been registered for combined immunodeficiency due to CD3gamma deficiency.

112 publications have been identified in PubMed for combined immunodeficiency due to CD3gamma deficiency. Research spans Basic Science / Preclinical (62%), Epidemiology / Natural History (10%), and Case Report / Case Series (7%).