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Article

VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome.

BMJ case reports - 22 Dec 2022

Neupane Karun, Jayarangaiah Apoorva, Zhang Yan, Kumar Abishek

Abstract excerpt

VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a novel inflammatory syndrome that was first described in December 2020. Patients with VEXAS syndrome have a somatic mutation in the UBA1 gene, inflammatory conditions and usually haematological conditions. Haematological conditions reported in patients with VEXAS syndrome include myelodysplastic syndrome (MDS), clonal cytopenia of...

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Identifiers

PMID: 36549759
DOI: 10.1136/bcr-2022-251089
PMCID: PMC9791449

Provenance

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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