• Title of article

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

  • Author/Authors

    Safaei، Sepideh نويسنده Immunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Safaei, Sepideh , Pourpak، Zahra نويسنده , , Moin، Mostafa نويسنده , , Houshmand، Massoud نويسنده ,

  • Issue Information
    فصلنامه با شماره پیاپی 0 سال 2011
  • Pages
    4
  • From page
    129
  • To page
    132
  • Abstract
    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).
  • Journal title
    Iranian Journal of Allergy, Asthma and Immunology
  • Serial Year
    2011
  • Journal title
    Iranian Journal of Allergy, Asthma and Immunology
  • Record number

    2386314