ZAP 70 Deficiency

ZAP70 deficiency

ZAP70 deficiency (zeta-chain-associated protein 70 kD deficiency) is a rare, autosomal recessive form of severe combined immunodeficiency (SCID).^[1]

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.^[2]

Treatment

ZAP70 deficiency has an autosomal recessive pattern of inheritance.No cure currently exists; however,gene therapy has been proposed. 

Public Discussion