ZAP-70 deficiency

ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency characterized by the selective absence of CD8+ T cells and by abundant CD4+ T cells in the peripheral blood that are unresponsive to T cell receptor (TCR)-mediated stimuli in vitro. Eight children from five families were described in the literature.

Alternative names

Zeta associated protein of 70kDa


  • Combined B and T cell immunodeficiencies
    • Other


Autosomal recessive


#600802 Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type

+176947 Zeta-chain-associated protein kinase; ZAP70

Cross references

Phenotypically related immunodeficiencies

TMEM142 deficiency


Incidence is not known.