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Article

Neutrophils take center stage in VEXAS syndrome pathogenesis.

The Journal of clinical investigation - 3 Nov 2025

Tambralli Ajay, Knight Jason S

Abstract excerpt

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by somatic UBA1 mutations in hematopoietic stem cells. UBA1 encodes a key enzyme that catalyzes protein ubiquitination. Clinically, VEXAS is characterized by systemic inflammation and hematologic abnormalities. Patient studies have hinted that the transition of UBA1-mutated stem cells into...

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Identifiers

PMID: 41178709
DOI: 10.1172/JCI199299
PMCID: PMC12578374

Genes

UBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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