Year: 2024
Type: article
Abstract: BACKGROUND: 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.
Source: BMC Infectious Diseases
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
Institutions: Zhengzhou University, Zhengzhou Children's Hospital
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
Awards: G6686154573, G7151890780
OpenAlex ID: W4402522058
