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Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Authors: James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. de Tute, Paul Evans, Daniela Ospina Cardona, David Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic - Blood 2021 cited by 232

Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome | Litlas