Estimated Prevalence and Clinical Manifestations of <i>UBA1</i> Variants Associated With VEXAS Syndrome in a Clinical Population

B. Beck, David; L. Bodian, Dale; Shah, Vandan; L. Mirshahi, Uyenlinh; Kim, Jung; Ding, Yi; J. Magaziner, Samuel; T. Strande, Natasha; Cantor, Anna; S. Haley, Jeremy; Cook, Adam; Hill, Wesley; L. Schwartz, Alan; C. Grayson, Peter; A. Ferrada, Marcela; L. Kastner, Daniel; J. Carey, David; R. Stewart, Douglas

doi:10.1001/jama.2022.24836

Public

Estimated Prevalence and Clinical Manifestations of <i>UBA1</i> Variants Associated With VEXAS Syndrome in a Clinical Population

Published in JAMA • Jan 24, 2023

Authors:

David B. Beck

Dale L. Bodian

Vandan Shah

Abstract

Importance: VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of pr...

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Open Access

Subject

Medicine

Population

Internal medicine

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