Article
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Clinical immunology (Orlando, Fla.) - 1 Dec 2024
Yan Lulu, Sun Xiangwei, Lou Biying, Zhang Yuxin, Zhuang Danyan, Jia Jia, Zhang Li, He Yan, Xu Limin, Wu Shanshan, Zhou Qing, Chen Changshui, Yu Xiaomin, Li Haibo
Abstract excerpt
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease characterised by early onset stroke, recurrent fever, and diverse vascular pathologies, caused by loss-of-function homozygous or compound heterozygous variants of ADA2. This research aimed to determine the carrier frequency and expected incidence of DADA2 in China, using massive exome sequencing (ES) data. A total of 50...
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