Ontology highlight
ABSTRACT:
SUBMITTER: Zhou Q
PROVIDER: S-EPMC5018768 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Zhou Qing Q Yu Xiaomin X Demirkaya Erkan E Deuitch Natalie N Stone Deborah D Tsai Wanxia Li WL Kuehn Hye Sun HS Wang Hongying H Yang Dan D Park Yong Hwan YH Ombrello Amanda K AK Blake Mary M Romeo Tina T Remmers Elaine F EF Chae Jae Jin JJ Mullikin James C JC Güzel Ferhat F Milner Joshua D JD Boehm Manfred M Rosenzweig Sergio D SD Gadina Massimo M Welch Steven B SB Özen Seza S Topaloglu Rezan R Abinun Mario M Kastner Daniel L DL Aksentijevich Ivona I
Proceedings of the National Academy of Sciences of the United States of America 20160824 36
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 ...[more]