title: IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
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).
authors.affiliation: Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Safaei
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020395:Receptors, Interleukin-7 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; D020395:Receptors, Interleukin-7; C064658:RAG-1 protein