ZAP70 deficiency

ZAP70 deficiency, or zeta-chain-associated protein 70 kD deficiency, is a rare autosomal recessive form of severe combined immunodeficiency (SCID).

It is associated with ZAP70.

Presentation
It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli.

Treatment
No cure currently exists; however, gene therapy has been proposed.