ZAP70 deficiency

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ZAP70 deficiency
Classification and external resources
OMIM 176947
DiseasesDB 34801

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[edit]

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[edit]

ZAP70 deficiency has an autosomal recessive pattern of inheritance.

No cure currently exists; however, gene therapy has been proposed.[4][5]

References[edit]

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 176947
  2. ^ 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. 
  3. ^ ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
  4. ^ 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. 
  5. ^ 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. 

External links[edit]