title: Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
abstract: Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS). The clinical, immunologic, and genetic characteristics of RAG mutations in Chinese patients with SCID or OS have not been studied in detail. In this research, 22 RAG mutations were identified in 15 Chinese patients, including 10 novel mutations in RAG1 (R108X, M630T, E510X, S666P, E669K, C730Y, A857V, K847E, L922PfsX7, and L1025FfsX39) and 4 in RAG2 (R73C, I427GfsX12, P432L, and 311insL). L1025FfsX39 is a potential RAG1 hot-spot mutation in the Chinese population. The distribution of RAG1 mutations rather than mutation type seemed to differ between SCID and OS patients. The thymic output of T lymphocytes, TCR rearrangement, and T cell proliferation were severely impaired in RAG mutant patients. These findings will contribute to the early diagnosis and treatment of SCID and OS to a certain extent.
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Bai
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.affiliation: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Chaohong
authors.initials: C
authors.lastname: Liu
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Yongjie
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Tang
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Rongxin
authors.initials: R
authors.lastname: Dai
authors.affiliation: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Junfeng
authors.initials: J
authors.lastname: Wu
authors.affiliation: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Xuemei
authors.initials: X
authors.lastname: Tang
authors.affiliation: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Research Center for Immunologic and Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. zhaoxd530@aliyun.com.|Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. zhaoxd530@aliyun.com.|Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. zhaoxd530@aliyun.com.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Zhao
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008213:Lymphocyte Activation; D018655:Lymphocyte Count; D008297:Male; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D011948:Receptors, Antigen, T-Cell; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein
keywords: Mutation; Omenn syndrome; Recombination Activating Gene 1; Recombination Activating Gene 2; Severe combined immunodeficiency