The frequency of IL7R Gene Mutation and Polymorphisms in Severe Combined Immunodeficiency patients
Journal Title: Sağlık Akademisi Kastamonu - Year 2018, Vol 3, Issue 2
Abstract
Severe combined immunodeficiencies are a group of rare inherited disorders with profound defects in immune cells. This genetic disorder might have effect on T lymphocytes, B lymphocytes and/or Natural Killer cells (NK). This study aimed at the identifying the polymorphisms in ınterleukin 7 reseptor gene present in severe combined immunodeficies patients who located in southern part of Turkey. A total of 30 patients with severe combined immunodeficiencies that were diagnosed both clinically and by flow cytometric measurements were also investigated for ınterleukin 7 reseptor polymorphisms using Sanger sequencing. While the mean total lymphocytes were lower than the reference, lymphocyte subsets showed variabilities. One heterozygote p.R140Q (c.419G>A) mutation was identified in 1 patient (n=1, %3,3) and 86.7% (n=26) of all patients had ınterleukin 7 reseptor polymorphisms (T166I, I138V, T244I and I356V) whether heterozygote and/or homozygote. The frequent occurence of ınterleukin 7 reseptor gene polymorphisms in patients with severe immunodeficiency has strengthened the view that there is a relationship between this polymorphism and disease.
Authors and Affiliations
Atıl Bişgin, İbrahim Boğa, Mustafa Yılmaz, Derya Ufuk Altıntaş
Keywords
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- EP ID EP371048
- DOI 10.25279/sak.350281
- Views 80
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