Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Author:

Beck David B.1,Ferrada Marcela A.1,Sikora Keith A.1,Ombrello Amanda K.1,Collins Jason C.1,Pei Wuhong1,Balanda Nicholas1,Ross Daron L.1,Ospina Cardona Daniela1,Wu Zhijie1,Patel Bhavisha1,Manthiram Kalpana1,Groarke Emma M.1,Gutierrez-Rodrigues Fernanda1,Hoffmann Patrycja1,Rosenzweig Sofia1,Nakabo Shuichiro1ORCID,Dillon Laura W.1ORCID,Hourigan Christopher S.1,Tsai Wanxia L.1,Gupta Sarthak1,Carmona-Rivera Carmelo1,Asmar Anthony J.1,Xu Lisha1,Oda Hirotsugu1,Goodspeed Wendy1,Barron Karyl S.1,Nehrebecky Michele1,Jones Anne1,Laird Ryan S.1,Deuitch Natalie1ORCID,Rowczenio Dorota1,Rominger Emily1,Wells Kristina V.1,Lee Chyi-Chia R.1,Wang Weixin1,Trick Megan1,Mullikin James1,Wigerblad Gustaf1,Brooks Stephen1,Dell’Orso Stefania1,Deng Zuoming1,Chae Jae J.1,Dulau-Florea Alina1,Malicdan May C.V.1,Novacic Danica1,Colbert Robert A.1,Kaplan Mariana J.1,Gadina Massimo1,Savic Sinisa1ORCID,Lachmann Helen J.1,Abu-Asab Mones1,Solomon Benjamin D.1,Retterer Kyle1,Gahl William A.1,Burgess Shawn M.1ORCID,Aksentijevich Ivona1ORCID,Young Neal S.1,Calvo Katherine R.1,Werner Achim1ORCID,Kastner Daniel L.1,Grayson Peter C.1

Affiliation:

1. From the National Human Genome Research Institute (D.B.B., A.K.O., W.P., N.B., D.L.R., D.O.C., K.M., P.H., S.R., L.X., H.O., M.N., A.J., R.S.L., N.D., J.J.C., M.C.V.M., D.N., B.D.S., W.A.G., S.M.B., I.A., D.L.K.), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (M.A.F., K.A.S., S.N., W.L.T., S.G., C.C.-R., W.G., E.R., K.V.W., G.W., S.B., S.D., Z.D., R.A.C., M.J.K., M.G., P.C.G.), the National Institute of Dental and Craniofacial Research (J.C.C., A.J.A., A.W.), the Undiagnosed...

Publisher

Massachusetts Medical Society

Subject

General Medicine

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