ZAP70 deficiency

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ZAP70 deficiency
Classification and external resources
OMIM 176947
DiseasesDB 34801

ZAP70 deficiency, or zeta-chain-associated protein 70 kD deficiency,[1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID).[2]

It is associated with ZAP70.

Presentation[edit]

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.[3]

Treatment[edit]

ZAP70 deficiency has an autosomal recessive pattern of inheritance.

No cure currently exists; however, gene therapy has been proposed.[4][5]

References[edit]

External links[edit]