%0 Journal Article
%T 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
%A At£¿l B£¿£¿G£¿N
%A £¿brahim BO£¿A
%A Mustafa YILMAZ
%A Derya Ufuk ALTINTA£¿
%J Health Academy Kastamonu
%P 102-114
%@ 2548-1010
%D 2018
%R 10.25279/sak.350281
%X 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.
%K Severe Combined Immunodeficiency
%K IL7R Polymorphisms
%K IL7R Mutation
%U https://dergipark.org.tr/tr/pub/sak/issue/36130/350281