Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature

作者：Shirkani Afshin; Shahrooei Mohammad; Azizi Gholamreza; Rokni Zadeh Hassan; Abolhassani Hassan; Farrokhi Shokrollah; Frans Glynis; Bossuyt Xavier^*; Aghamohammadi Asghar^*

来源：Immunological Investigations, 2017, 46(1): 70-79.

DOI：10.1080/08820139.2016.1214962

• Immunodeficiency
• lymphocyte
• ZAP-70

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. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response. Immunoglobulin levels were normal, but the specific antibody response was impaired. Whole exome sequencing revealed a mutation within the kinase domain of ZAP-70. ZAP-70 deficiency should be considered in infants and young children with recurrent bacterial infections, in spite of having palpable lymph nodes, a notable thymus shadow, and a normal total lymphocyte count.

• 出版日期2017
• 单位KU Leuven