ZAP70 deficiency
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| ZAP70 deficiency | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 176947 |
| DiseasesDB | 34801 |
| Patient UK | ZAP70 deficiency |
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
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
ZAP70 deficiency has an autosomal recessive pattern of inheritance.
No cure currently exists; however, gene therapy has been proposed.[4][5]
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 176947
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- GeneReviews/NCBI/NIH/UW entry on ZAP70-Related Severe Combined Immunodeficiency
- IDR Factfile
- ZAP70base: Mutation registry for autosomal recessive ZAP70 deficiency
- Online 'Mendelian Inheritance in Man' (OMIM) 176947
- ZAP70 deficiency; Selective T-cell defect; Zeta-associated-protein 70 deficiency at NIH's Office of Rare Diseases
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