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Article

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

American journal of clinical pathology - 9 Sept 2025

Wadsworth Paul A, Chen Simon B, Lawrence Lauren, Ho Chandler C, Le Joseph E, Libiran Paolo, Grayson Peter C, Ferrada Marcela A, Beck David B, Suarez Carlos J

Abstract excerpt

OBJECTIVE: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described autoinflammatory syndrome caused by pathogenic variants in UBA1. However, there is a dearth of widely available UBA1 testing aside from large, expensive sequencing studies. Thus, we sought to rapidly develop, validate, and clinically deploy a cost-effective assay for detecting the most common UBA1 variants....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40418703
DOI: 10.1093/ajcp/aqaf051
PMCID: PMC13016694

Genes

UBA1

Provenance

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

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