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A novel Bruton's tyrosine kinase gene (BTK) invariant splice site mutation in a Malaysian family with X-linked agammaglobulinemia.一个马来西亚家族性 X 连锁无丙种球蛋白血症中存在新型 Bruton's 酪氨酸激酶基因（BTK）不变剪接位点突变。
Asian Pac J Allergy Immunol. 2013 Dec;31(4):320-4. doi: 10.12932/AP0304.31.4.2013.
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Antigen presentation under the influence of 'immune evasion' proteins and its modulation by interferon-gamma: implications for immunotherapy of cytomegalovirus infection with antiviral CD8 T cells.在“免疫逃逸”蛋白的影响下的抗原呈递及其被干扰素-γ的调节：抗病毒 CD8 T 细胞治疗巨细胞病毒感染的免疫治疗学意义。
Med Microbiol Immunol. 2012 Nov;201(4):513-25. doi: 10.1007/s00430-012-0256-z. Epub 2012 Sep 9.
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Diverse immune evasion strategies by human cytomegalovirus.人巨细胞病毒的多种免疫逃逸策略。
Immunol Res. 2012 Dec;54(1-3):140-51. doi: 10.1007/s12026-012-8304-8.
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J Immunol. 2012 Mar 15;188(6):2794-804. doi: 10.4049/jimmunol.1102068. Epub 2012 Feb 15.
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Dendritic and T cell response to influenza is normal in the patients with X-linked agammaglobulinemia.X 连锁无丙种球蛋白血症患者的树突状细胞和 T 细胞对流感的反应正常。
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X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity.X连锁原发性免疫缺陷作为深入理解X染色体相关自身免疫的桥梁。
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成年男性因新突变导致的布鲁顿无丙种球蛋白血症：一例报告

Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report.

作者信息

Xu Yuanda, Qing Qi, Liu Xuesong, Chen Sibei, Chen Ziyi, Niu Xuefeng, Tan Yaxia, He Weiqun, Liu Xiaoqing, Li Yimin, Chen Rongchang, Chen Ling

机构信息

State Key Lab of Respiratory Disease, Guangzhou Institute of Respiratory Disease, The First Affiliated to Guangzhou Medical University, Guangzhou 510120, China.

Guangzhou Institute of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.

出版信息

J Thorac Dis. 2016 Oct;8(10):E1207-E1212. doi: 10.21037/jtd.2016.10.12.

DOI:10.21037/jtd.2016.10.12
PMID:27867589
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5107543/
Abstract

X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.

摘要

X连锁无丙种球蛋白血症（XLA）由编码布鲁顿酪氨酸激酶（BTK）的基因突变引起，该突变会损害外周B细胞成熟并导致低丙种球蛋白血症。在本报告中，我们介绍了一名22岁成年男性的XLA病例。基因检测发现一个位于保守区域的新突变（c.383T>C）。该患者有反复呼吸道感染病史，最终发展为慢性II型呼吸衰竭。支气管镜检查获取的呼吸道分泌物培养分离出几种病原菌。患者经抗生素治疗后病情好转。