| 邓谷霖,徐红冰.反复肺部感染的X-连锁无丙种球蛋白血症诊疗与基因报告分析[J].安徽医药,2022,26(5):1019-1022. |
| 反复肺部感染的X-连锁无丙种球蛋白血症诊疗与基因报告分析 |
| Analysis of the diagnosis and genetic report of a case of X-linked agammaglobulinemia with recurrent pulmonary infection |
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| DOI：10.3969/j.issn.1009-6469.2022.05.040 |
| 中文关键词: X连锁联合免疫缺陷疾病 丙种球蛋白缺乏血症 X-连锁无丙种球蛋白血症 免疫缺陷 酪氨酸激酶基因 |
| 英文关键词: X-linked combined immunodeficiency diseases Agammaglobulinemia X-linked agammaglobulinemia Immunode?ficiency Tyrosine kinase gene |
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| 中文摘要: |
| 目的提高医务人员对X-连锁无丙种球蛋白血症的认识，防范此类病人可能并发的疾病，指导对该类病人的防治宣教。方法对2020年1月西南医科大学附属中医医院收治的1例长期反复呼吸道感染伴血清IgA、IgG、IgM明显降低的免疫缺陷青年病人采用芯片捕获高通量测序方法检测其全血，并对其检测结果进行分析解读。结果检测报告提示在受检者中检出Bruton酪氨酸激酶(BTK)基因的致病突变，从而导致无丙种球蛋白血症，为X染色体隐性遗传。结论该病人长期反复呼吸道感染和免疫球蛋白低下与BTK基因致病突变有密切关系，其相应核苷酸变化c.763C>T(p.Arg255Ter)为首次报道，对其父母和子女都应进一步开展免疫功能筛查和生活宣教。 |
| 英文摘要: |
| Objective To improve medical staff's awareness of X-linked agammaglobulinemia (XLA), prevent possible complica?tions of such patients, and guide the prevention and education of such patients.Methods In January 2020, the whole blood of a young immunocompromised patient with long-term recurrent respiratory tract infection and significantly decreased serum IgA, IgG, and IgM who was admitted to the Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University was detected by CHIP cap?ture high-throughput sequencing. Analysis and interpretation of the test results.Results The test report indicated that a pathogenic mutation in the Bruton tyrosine kinase (BTK) gene was detected in the subject, resulting in agammaglobulinemia, which was X chromo?some recessive inheritance.Conclusions The patient's long-term repeated respiratory tract infection and low immunoglobulin levels are closely related to the pathogenic mutation of the BTK gene. The corresponding nucleotide change c.763C > T (p.Arg255Ter) is the first report, and further research should be carried out for both parents and children. Immune function screening and life education. |
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