This work identifies two rare genetic variants of UNC93B1 that contribute to the development of childhood-onset lupus. Mice that expressed one of these variants developed a lupus-like disease. UNC93B1 is known to regulate the localization of Toll-like receptors (TLRs) to the endosome, and UNC93B1 variants resulted in enhanced responses to TLR7 and TLR8 agonists.

中文翻译：

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两种罕见的 UNC93B1 变异导致儿童期发病的狼疮


这项工作确定了 UNC93B1 的两种罕见遗传变异，它们有助于儿童期发病的狼疮的发展。表达其中一种变异的小鼠患上了狼疮样疾病。 UNC93B1 已知可调节 Toll 样受体 (TLR) 在内体的定位，UNC93B1 变体可增强对 TLR7 和 TLR8 激动剂的反应。