Article
A Cohort Study on Deficiency of ADA2 from China.
Journal of clinical immunology - 1 May 2023
Li Guo-Min, Han Xu, Wu Ye, Wang Wei, Tang Hong-Xia, Lu Mei-Ping, Tang Xue-Mei, Lin Yi, Deng Fan, Yang Jun, Wang Xin-Ning, Liu Cong-Cong, Zheng Wen-Jie, Wu Bing-Bing, Zhou Fang, Luo Hong, Zhang Liang, Liu Hai-Mei, Guan Wan-Zhen, Wang Shi-Hao, Tao Pan-Feng, Jin Tai-Jie, Fang Ran, Wu Yuan, Zhang Jie, Zhang Yao, Zhang Tian-Nan, Yin Wei, Guo Li, Tang Wen-Jing, Chang Hong, Zhang Qiu-Ye, Li Xiao-Zhong, Li Jian-Guo, Zhou Zhi-Xuan, Yang Si-Rui, Yang Kang-Kang, Xu Hong, Song Hong-Mei, Deuitch Natalie T, Lee Pui Y, Zhou Qing, Sun Li
Abstract excerpt
PURPOSE: Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. We aim to further characterize DADA2 cases in China. METHODS: A retrospective analysis of patients with DADA2 identified through whole exome sequencing (WES) at...
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