CD3ε deficiency

CD3ε deficiency is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3ε (epsilon) chain precursors. Patients with CD3ε deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

Alternative names

CD3E deficiency

CD3 complex component

Classification

  • Combined B and T cell immunodeficiencies
    • CD3 deficiency

Inheritance

Autosomal recessive

OMIM

*186830 CD3 antigen, epsilon subunit; CD3E

Cross references

Genetically related immunodeficiencies

IDR factfile for CD3γ deficiency

Incidence

Incidence is not known.