ZAP70 deficiency
Template:Infobox medical condition (new) 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.
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.Script error: No such module "Unsubst".
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
- GeneReviews/NCBI/NIH/UW entry on ZAP70-Related Severe Combined Immunodeficiency
- Template:RareDiseases
External links
Template:Medical resources Template:Immune disorders Template:Deficiencies of intracellular signaling peptides and proteins
- ↑ Online Mendelian Inheritance in Man (OMIM): 176947
- ↑ Script error: No such module "Citation/CS1".
- ↑ a b c d Script error: No such module "citation/CS1".
- ↑ ZAP-70 Deficiency at The Merck Manual of Diagnosis and Therapy Professional Edition
- ↑ Script error: No such module "citation/CS1".