Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
JAMA - 24 Jan 2023
Beck David B, Bodian Dale L, Shah Vandan, Mirshahi Uyenlinh L, Kim Jung, Ding Yi, Magaziner Samuel J, Strande Natasha T, Cantor Anna, Haley Jeremy S, Cook Adam, Hill Wesley, Schwartz Alan L, Grayson Peter C, Ferrada Marcela A, Kastner Daniel L, Carey David J, Stewart Douglas R
Abstract excerpt
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 prevalence, penetrance, and clinical characteristics of this disease have been limited by ascertainment biases based...
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