ZAP70 deficiency

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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

  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. PMID 12149205. doi:10.1182/blood-2002-01-0247. 
  2. ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
  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. PMID 16075064. doi:10.1172/JCI23966. 
  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. PMC 2323614Freely accessible. PMID 18446234. doi:10.1371/journal.pone.0002059. 

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