ZAP70 deficiency (zeta-chain-associated protein 70 kD deficiency) is a rare, autosomal recessive form of severe combined immunodeficiency (SCID).[1]
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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.[2]
Treatment
No cure currently exists; however, gene therapy has been proposed.[3][4]
References
- ^ 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:. PMID 12149205. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12149205.
- ^ ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
- ^ Adjali O, Marodon G, Steinberg M, et al. (2005). "In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer". J. Clin. Invest. 115 (8): 2287–95. doi:. PMID 16075064.
- ^ Irla M, Saade M, Kissenpfennig A, et al. (2008). "ZAP-70 restoration in mice by in vivo thymic electroporation". PLoS ONE 3 (4): e2059. doi:. PMID 18446234. PMC: 2323614. http://www.plosone.org/article/info:doi/10.1371/journal.pone.0002059.
External links
- 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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