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Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.

Rheumatology international - 1 Jul 2024

Kouranloo Koushan, Dey Mrinalini, Almutawa Jude, Myall Nikki, Nune Arvind

Abstract excerpt

BACKGROUND: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1 gene. The syndrome leads to multi-system inflammation affecting predominantly the skin, lungs and bone marrow. METHODS: We undertook a systematic review of the multisystem features and genotypes observed in VEXAS syndrome. Articles...

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PMID: 38129348
DOI: 10.1007/s00296-023-05513-0

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