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.
[edit] 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]
[edit] Treatment
No cure currently exists; however, gene therapy has been proposed.[4][5]
[edit] References
- ^ 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. 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:10.1172/JCI23966. PMC 1180533. PMID 16075064. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180533.
- ^ Irla M, Saade M, Kissenpfennig A, et al. (2008). Gold, Jeffrey A.. ed. "ZAP-70 restoration in mice by in vivo thymic electroporation". PLoS ONE 3 (4): e2059. doi:10.1371/journal.pone.0002059. PMC 2323614. PMID 18446234. http://www.plosone.org/article/info:doi/10.1371/journal.pone.0002059.
[edit] External links
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Deficiencies of intracellular signaling peptides and proteins
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| GTP-binding protein regulators |
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| G protein |
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| MAP kinase |
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| Other kinase/phosphatase |
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| Signal transducing adaptor proteins |
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| Other |
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see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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