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ZAP70 deficiency
Medical condition From Wikipedia, the free encyclopedia
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ZAP70 deficiency, or ZAP70 deficient SCID,[1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells.[2] People with this disease lack the capability to fight infections, and it is fatal if untreated.
It is cause by a mutation in the ZAP70 gene.
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Presentation
Children with this condition typically present with infections and skin rashes.[3] Unlike many forms of SCID, absolute lymphocyte count is normal and thymus is present.[citation needed]
Cause
ZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, which is involved in the development of T cells.[3]
Diagnosis
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.[4] Diagnosis is usually made within the first six months of life. Genetic testing is required.[3]
Treatment
Hematopoietic stem cell transplantation is the only known cure for ZAP70 deficient SCID.[5]
Epidemiology
ZAP70 deficiency SCID is estimated to occur in approximately 1 in 50,000 people. Fewer than fifty people with this condition have been identified.[3]
References
Further reading
External links
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