Article
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.
Immunological investigations - 1 Jan 2017
Shirkani Afshin, Shahrooei Mohammad, Azizi Gholamreza, Rokni-Zadeh Hassan, Abolhassani Hassan, Farrokhi Shokrollah, Frans Glynis, Bossuyt Xavier, Aghamohammadi Asghar
Abstract excerpt
ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity....
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