Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

Abstract

Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes. We named this disorder the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. (Funded by the NIH Intramural Research Programs and the EU Horizon 2020 Research and Innovation Program.).

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Affiliated Institutions

• National Institute of Allergy and Infectious Diseases US
• National Eye Institute US
• National Institute of Arthritis and Musculoskeletal and Skin Diseases US
• University College London GB
• Office of the Director US
• NIHR Leeds Musculoskeletal Biomedical Research Unit GB
• National Institute for Health Research GB
• National Heart Lung and Blood Institute US
• Royal Free London NHS Foundation Trust GB
• Cancer Institute (WIA) IN
• University of Leeds GB
• National Institute of Dental and Craniofacial Research US
• National Human Genome Research Institute US
• Center for Cancer Research US

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