Article
Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
Nature immunology - 1 Jun 2024
Al-Azab Mahmoud, Idiiatullina Elina, Liu Ziyang, Lin Meng, Hrovat-Schaale Katja, Xian Huifang, Zhu Jianheng, Yang Mandy, Lu Bingtai, Zhao Zhiyao, Liu Yiyi, Chang Jingjie, Li Xiaotian, Guo Caiqin, Liu Yunfeng, Wu Qi, Chen Jiazhang, Lan Chaoting, Zeng Ping, Cui Jun, Gao Xia, Zhou Wenhao, Zhang Yan, Zhang Yuxia, Masters Seth L
Abstract excerpt
Rare genetic variants in toll-like receptor 7 (TLR7) are known to cause lupus in humans and mice. UNC93B1 is a transmembrane protein that regulates TLR7 localization into endosomes. In the present study, we identify two new variants in UNC93B1 (T314A, located proximally to the TLR7 transmembrane domain, and V117L) in a cohort of east Asian patients with childhood-onset systemic lupus erythematosus. The V117L...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.