Novel Mutation of Zap-70-Related Combined Immunodeficiency: First Case From the National Iranian Registry and Review of the Literature Publisher Pubmed



Shirkani A¹ ; Shahrooei M^{2, 3} ; Azizi G^{4, 5} ; Roknizadeh H⁶ ; Abolhassani H^{5, 7} ; Farrokhi S⁸ ; Frans G⁹ ; Bossuyt X^{9, 10} ; Aghamohammadi A⁵ Show Affiliations
Source: Immunological Investigations Published:2017

Abstract

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. © 2016 Taylor & Francis.