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Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.
- Source :
- Immunological Investigations; Jan2017, Vol. 46 Issue 1, p70-79, 10p
- Publication Year :
- 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 theZAP70gene 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. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 08820139
- Volume :
- 46
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Immunological Investigations
- Publication Type :
- Academic Journal
- Accession number :
- 120392782
- Full Text :
- https://doi.org/10.1080/08820139.2016.1214962