ZAP70 deficiency

Overview

ZAP70 deficiency (zeta-chain-associated protein 70 kD deficiency) is a rare, autosomal recessive form of severe combined immunodeficiency (SCID).^[1]

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:10.1182/blood-2002-01-0247. PMID 12149205.
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↑ 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. 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:10.1371/journal.pone.0002059. PMC 2323614. PMID 18446234.

External links

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[pmid12149205-1] 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.

[2] Template:MerckManual

[pmid16075064-3] 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. PMID 16075064.

[pmid18446234-4] 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:10.1371/journal.pone.0002059. PMC 2323614. PMID 18446234.

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