Dual somatic UBA1 Met41 variants with distinct allele frequencies in VEXAS syndrome

Guiset Carvajal Bedoya; Marcela Ferrada; Daniela Gnecco

doi:10.1016/j.ero.2026.100207

July 3, 2026EULAR Rheumatology OpenOpen Access

Dual somatic UBA1 Met41 variants with distinct allele frequencies in VEXAS syndrome

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Key Points

Investigate the presence and implications of different somatic UBA1 Met41 variants in VEXAS syndrome.
Described a case of a patient with VEXAS syndrome
Identified two distinct somatic UBA1 Met41 variants
Analyzed variant allele frequencies (VAFs) of both mutations.
Two somatic UBA1 Met41 variants were identified with markedly different VAFs.
The presence of distinct variants suggests clonal heterogeneity in the disease.
Findings contribute to understanding the complexity of VEXAS syndrome.

Implication

Case report describes distinct somatic UBA1 variants leading to clonal heterogeneity in autoinflammatory disease VEXAS syndrome.

Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammation, somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease caused by somatic mutations in UBA1, most commonly involving methionine-41 (Met41), and characterised by systemic inflammation and cytopenias. We described a patient with VEXAS syndrome harbouring 2 distinct somatic UBA1 Met41 variants with markedly different variant allele frequencies (VAFs), suggesting clonal heterogeneity.

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Cite This Study

Bedoya et al. (2026) studied this question.

synapsesocial.com/papers/6a49f648f5d1d45b28800ca6 https://doi.org/10.1016/j.ero.2026.100207

View Full Paper

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Dual somatic UBA1 Met41 variants with distinct allele frequencies in VEXAS syndrome

Key Points

Implication

Abstract

Discussion

Cite This Study

Dual somatic UBA1 Met41 variants with distinct allele frequencies in VEXAS syndrome

Key Points

Implication

Abstract

Discussion

Cite This Study

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