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Article

Clinical and molecular spectrum of VEXAS with multiple UBA1 variants: case study and literature review.

American journal of clinical pathology - 3 Sept 2026

Das Riku, Prisneac Ion, Calvaresi Emilia, Mularo Frank, Pohl Jonathan, Wensel Christine, Press Richard D, Bosler David S

Abstract excerpt

OBJECTIVES: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare adult-onset autoinflammatory disorder, caused by a single somatic UBA1 mutation. We report a novel case with 3 independent UBA1-mutated clones and compare its clinical, hematologic, and laboratory features with those of the only 3 previously reported cases harboring multiple UBA1 mutations. METHODS: Droplet digital...

Read the complete abstract on PubMed

Topics

Humans
Ubiquitin-Activating Enzymes
Mutation
Male
Adult
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Inflammation

Genetic Diseases, X-Linked

Myelodysplastic Syndromes

Skin Diseases, Genetic

Source

Identifiers

PMID: 42692534
DOI: 10.1093/ajcp/aqag097

Genes

UBA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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