Definition

ZAP70 deficiency, the short term used for zeta-chain-associated protein 70 kD deficiency, is a rare and severe combined immunodeficiency.

Diagnosis



Treatment

ZAP70 deficiency genetically inherited. It cannot be cured but gene therapy proposed.

Symptoms

The deficiency is due to a lack of CD8+ T cells and the presence of circulating CD4+ T cells that are unresponsive to T-cell receptor-mediated stimuli.

Causes