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Article

Case report: diagnosis of VEXAS syndrome in a patient with therapy-resistant large vessel vasculitis.

Acta clinica Belgica - 1 Apr 2024

Boret M, Malfait T

Abstract excerpt

VEXAS (Vacuoles, E1 enzyme, X-linked, Auto-Inflammatory, Somatic) syndrome is a recently identified multisystemic auto-inflammatory condition caused by somatic mutations in the UBA1 gene. This syndrome presents diagnostic challenges due to its rare nature and varied clinical manifestations. We report the clinical course of a 76-year-old man with therapy-resistant large vessel vasculitis and myelodysplastic...

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Identifiers

PMID: 38314661
DOI: 10.1080/17843286.2024.2312627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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