Article
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
Orphanet journal of rare diseases - 2 Jan 2024
Duan Suying, Luo Haiyang, Wang Yunchao, Jiang Dongbin, Liu Jiajia, Li Jiaqi, Zheng Honglin, Zhao Taiqi, Liu Chenyang, Zhang Hang, Mao Chengyuan, Zhang Lei, Xu Yuming
Abstract excerpt
BACKGROUND: Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44...
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