Novel somatic mutations in UBA1 as a cause of VEXAS syndrome
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
Abstract
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.
Topics & Concepts
GeneticsSomatic cellMutationBiologyMedicineGeneOtitis Media and Relapsing PolychondritisAutoimmune and Inflammatory Disorders ResearchHistiocytic Disorders and Treatments