Article
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
The New England journal of medicine - 31 Dec 2020
Beck David B, Ferrada Marcela A, Sikora Keith A, Ombrello Amanda K, Collins Jason C, Pei Wuhong, Balanda Nicholas, Ross Daron L, Ospina Cardona Daniela, Wu Zhijie, Patel Bhavisha, Manthiram Kalpana, Groarke Emma M, Gutierrez-Rodrigues Fernanda, Hoffmann Patrycja, Rosenzweig Sofia, Nakabo Shuichiro, Dillon Laura W, Hourigan Christopher S, Tsai Wanxia L, Gupta Sarthak, Carmona-Rivera Carmelo, Asmar Anthony J, Xu Lisha, Oda Hirotsugu, Goodspeed Wendy, Barron Karyl S, Nehrebecky Michele, Jones Anne, Laird Ryan S, Deuitch Natalie, Rowczenio Dorota, Rominger Emily, Wells Kristina V, Lee Chyi-Chia R, Wang Weixin, Trick Megan, Mullikin James, Wigerblad Gustaf, Brooks Stephen, Dell'Orso Stefania, Deng Zuoming, Chae Jae J, Dulau-Florea Alina, Malicdan May C V, Novacic Danica, Colbert Robert A, Kaplan Mariana J, Gadina Massimo, Savic Sinisa, Lachmann Helen J, Abu-Asab Mones, Solomon Benjamin D, Retterer Kyle, Gahl William A, Burgess Shawn M, Aksentijevich Ivona, Young Neal S, Calvo Katherine R, Werner Achim, Kastner Daniel L, Grayson Peter C
Abstract excerpt
BACKGROUND: Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. METHODS: We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin-related genes. Sanger sequencing,...
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