Article
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Proceedings of the National Academy of Sciences of the United States of America - 6 Sept 2016
Zhou Qing, Yu Xiaomin, Demirkaya Erkan, Deuitch Natalie, Stone Deborah, Tsai Wanxia Li, Kuehn Hye Sun, Wang Hongying, Yang Dan, Park Yong Hwan, Ombrello Amanda K, Blake Mary, Romeo Tina, Remmers Elaine F, Chae Jae Jin, Mullikin James C, Güzel Ferhat, Milner Joshua D, Boehm Manfred, Rosenzweig Sergio D, Gadina Massimo, Welch Steven B, Özen Seza, Topaloglu Rezan, Abinun Mario, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients. Patients presented with...
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