IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID

IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID

SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results  indicated  that 13  mutations  were found  through  cases which  incl...

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Bibliographic Details
Main Authors: Sepideh Safaei, Zahra Pourpak, Mostafa Moin, Massoud Houshmand
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2011-06-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
IL7R
RAG1
RAG2
Severe Combined
Immunodeficiency Disorder
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/302
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spelling doaj-71d031d591f84a1ba51e5d4eedf162202020-11-25T04:12:40ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492011-06-01102302IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCIDSepideh Safaei0Zahra Pourpak1Mostafa Moin2Massoud Houshmand3Immunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, IranImmunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, IranImmunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, IranNational Institute for Genetic Engineering and Biotechnology, Tehran, Iran SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results  indicated  that 13  mutations  were found  through  cases which  include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251). https://ijaai.tums.ac.ir/index.php/ijaai/article/view/302IL7RRAG1RAG2Severe CombinedImmunodeficiency Disorder
collection DOAJ
language English
format Article
sources DOAJ
author Sepideh Safaei
Zahra Pourpak
Mostafa Moin
Massoud Houshmand
spellingShingle Sepideh Safaei
Zahra Pourpak
Mostafa Moin
Massoud Houshmand
IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
Iranian Journal of Allergy, Asthma and Immunology
IL7R
RAG1
RAG2
Severe Combined
Immunodeficiency Disorder
author_facet Sepideh Safaei
Zahra Pourpak
Mostafa Moin
Massoud Houshmand
author_sort Sepideh Safaei
title IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
title_short IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
title_full IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
title_fullStr IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
title_full_unstemmed IL7R and RAG1/2 Genes Mutations/Polymorphisms in Patients SCID
title_sort il7r and rag1/2 genes mutations/polymorphisms in patients scid
publisher Tehran University of Medical Sciences
series Iranian Journal of Allergy, Asthma and Immunology
issn 1735-1502
1735-5249
publishDate 2011-06-01
description SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results  indicated  that 13  mutations  were found  through  cases which  include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).
topic IL7R
RAG1
RAG2
Severe Combined
Immunodeficiency Disorder
url https://ijaai.tums.ac.ir/index.php/ijaai/article/view/302
work_keys_str_mv AT sepidehsafaei il7randrag12genesmutationspolymorphismsinpatientsscid
AT zahrapourpak il7randrag12genesmutationspolymorphismsinpatientsscid
AT mostafamoin il7randrag12genesmutationspolymorphismsinpatientsscid
AT massoudhoushmand il7randrag12genesmutationspolymorphismsinpatientsscid
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