CD3γ deficiency

CD3γ deficiency is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3γ (gamma) chain precursors. Patients with CD3γ deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.

Alternative names

CD3-gamma deficiency

CD3 complex components

Classification

  • Combined B and T cell immunodeficiencies
    • CD3 deficiency

Inheritance

Autosomal recessive

OMIM

*186740 CD3 antigen, gamma subunit; CD3G

Cross references

Genetically related immunodeficiencies

IDR factfile for CD3ε deficiency

Incidence

Incidence unknown.