Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China
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Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China Cui Zhang, Zhi-Yong Zhang, Jun-Feng Wu, Xue-Mei Tang, Xi-Qiang Yang, Li-Ping Jiang, Xiao-Dong Zhao Chongqing, China
Original article
Background: X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations of the gene for the γ-chain (γc) of the interleukin-2 receptor, IL2RG. We analyzed the clinical, immunologic, and molecular characteristics of children with X-SCID, attempting to improve the diagnosis and treatment of X-SCID in China. Methods: X-SCID was suspected in male infants with recurrent or persistent infections. Eleven male infants from ten unrelated Chinese families were included. The IL2RG gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. X-linked short tandem repeat (X-STR) typing was done to define the maternal lymphocyte engraftment. Results: The 11 children exhibited recurrent infections and 10 of them had lymphopenia. B cells were present in all patients, T cells were markedly reduced in 10, and NK cells were markedly reduced in 9. Nine IL2RG gene mutations were identified in the 11 children, with 5 novel mutations. One patient was found to have the maternal lymphocyte engraftment. C o n c l u s i o n : T h e c l i n i c a l p re s e n t a t i o n s a n d immunologic characteristics of the X-SCID patients were accordingly quite uniform despite the heterogeneity of mutations locating almost in the entire γc gene. World J Pediatr 2013;9(1):42-47
Author Affiliations: Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China (Zhang C, Zhang ZY, Wu JF, Tang XM, Yang XQ, Jiang LP, Zhao XD) Corresponding Author: Xiao-Dong Zhao, Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China (Tel: +86 23 6362 2554; Fax: +86 23 6360 2136; Email: [email protected]) doi: 10.1007/s12519-011-0330-4 ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2011. All rights reserved.
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Key words: clinical characteristics; IL2RG gene; mutation; severe combined immunodeficiency; X-linked trait
Introduction
S
evere combined immunodeficiency (SCID) is a group of rare single gene disorders characterized by profound cellular and humoral immune dysfunction. [1,2] SCID has some underlying genetic defects, and all forms of SCID manifest as a common clinical characteristic, such as extreme susceptibility to infections, which may lead to death in the first few months of life unless immunologic reconstitution is achieved. The treatment and prevention of these infections could prolong the survival of patients but could not cure the disorder. [3] Approximately half of the SCID patients are diagnosed with X-linked SCID (X-SCID) which is caused by mutations in the interleukin-2 receptor common γ-chain (IL2RG, γc) gene encoding the γc of the IL-2, IL-4, IL-7, IL-9, IL15 and IL-2
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