IL7R GEN MUTASYON VE POL？MORF？ZMLAR？N？N A？IR KOMB？NE ？MMUN YETMEZL？KL？ HASTALARDAK？ SIKLI？I/ The frequency of IL7R Gene Mutation and Polymorphisms in Severe Combined Immunodeficiency patients

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 ？nterleukin 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 ？nterleukin 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 ？nterleukin 7 reseptor polymorphisms (T166I, I138V, T244I and I356V) whether heterozygote and/or homozygote. The frequent occurence of ？nterleukin 7 reseptor gene polymorphisms in patients with severe immunodeficiency has strengthened the view that there is a relationship between this polymorphism and disease.