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Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K Ombrello, Mary Blake, Tina Romeo, Elaine F Remmers, Jae Jin Chae, James C Mullikin, Ferhat Güzel, Joshua D Milner, Manfred Boehm, Sergio D Rosenzweig, Massimo Gadina, Steven B Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L Kastner, Ivona Aksentijevich
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 neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency...
September 6, 2016: Proceedings of the National Academy of Sciences of the United States of America
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