VEXAS syndrome: a diagnostic puzzle

The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad ran...

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Bibliographic Details
Main Authors: Martin Krusche, Nikolas Ruffer
Format: Article
Language:English
Published: BMJ Publishing Group 2023-07-01
Series:RMD Open
Online Access:https://rmdopen.bmj.com/content/9/3/e003332.full