一名 X 连锁丙种球蛋白血症患者的支原体肺炎

IF 3.4 3区医学 Q2 INFECTIOUS DISEASES BMC Infectious Diseases Pub Date : 2024-09-13 DOI:10.1186/s12879-024-09743-w

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

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引用次数: 0

摘要

X连锁丙种球蛋白血症（XLA）又称布鲁顿酪氨酸激酶缺乏症，是一种影响免疫系统的罕见遗传性疾病。我们利用新一代测序技术对免疫缺陷症患者及其近亲进行基因分析，以便准确诊断，提供遗传咨询服务，并提高我们对 XLA 的认识。

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Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia

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.

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来源期刊

BMC Infectious Diseases 医学-传染病学

CiteScore

6.50

自引率

0.00%

发文量

860

审稿时长

3.3 months

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.