{"title":"Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia","authors":"Bowen Dai, Shujuan Han, Yuanfang Shen, Zhi Li, Shouhang Chen, Zhuangzhuang Wang, Yan Yuan, Ruyu Zhang, Chenyu Wang, Jiaying Zheng, Qiujing Liang, Qingmei Wang, Yaodong Zhang, Xiaolong Zhang, Fang Wang, Yuefei Jin","doi":"10.1186/s12879-024-09743-w","DOIUrl":null,"url":null,"abstract":"X-linked agammaglobulinemia (XLA), also referred to as Bruton’s tyrosine kinase deficiency, is a rare genetic disorder that affects the immune system. We conducted genetic analysis on patients suffering from immunodeficiency by utilizing Next-Generation Sequencing techniques, as well as their closest relatives, to facilitate accurate diagnosis, offer genetic counseling services, and enhance our comprehension of XLA.","PeriodicalId":8981,"journal":{"name":"BMC Infectious Diseases","volume":null,"pages":null},"PeriodicalIF":3.4000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Infectious Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12879-024-09743-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"INFECTIOUS DISEASES","Score":null,"Total":0}
引用次数: 0
Abstract
X-linked agammaglobulinemia (XLA), also referred to as Bruton’s tyrosine kinase deficiency, is a rare genetic disorder that affects the immune system. We conducted genetic analysis on patients suffering from immunodeficiency by utilizing Next-Generation Sequencing techniques, as well as their closest relatives, to facilitate accurate diagnosis, offer genetic counseling services, and enhance our comprehension of XLA.
期刊介绍：
BMC Infectious Diseases is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of infectious and sexually transmitted diseases in humans, as well as related molecular genetics, pathophysiology, and epidemiology.
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