ZAP70 deficiency

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

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.