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.
| ZAP70 deficiency | |
|---|---|
| Other names | ZAP70 deficient SCID |
 | |
| ZAP70 deficiency has an autosomal recessive pattern of inheritance. | |
It is cause by a mutation in the ZAP70 gene.
Presentation
editChildren 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
editZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, which is involved in the development of T cells.[3]
Diagnosis
editIt 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
editHematopoietic stem cell transplantation is the only known cure for ZAP70 deficient SCID.[5]
Epidemiology
editZAP70 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
edit- ^ Online Mendelian Inheritance in Man (OMIM): 176947
- ^ Otsu M, Steinberg M, Ferrand C, et al. (2002). "Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells". Blood. 100 (4): 1248–56. doi:10.1182/blood-2002-01-0247. PMID 12149205.1248-56&rft.date=2002&rft_id=info:doi/10.1182/blood-2002-01-0247&rft_id=info:pmid/12149205&rft.aulast=Otsu&rft.aufirst=M&rft.au=Steinberg, M&rft.au=Ferrand, C&rft_id=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12149205&rfr_id=info:sid/en.wikipedia.org:ZAP70 deficiency" class="Z3988">
- ^ a b c d Reference, Genetics Home. "ZAP70-related severe combined immunodeficiency". Genetics Home Reference.
- ^ ZAP-70 Deficiency at The Merck Manual of Diagnosis and Therapy Professional Edition
- ^ "UpToDate". www.uptodate.com.