ArticleJournal of clinical immunology2025
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score.
Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed.
- VEXAS syndrome presenting with severe cutaneous manifestations, inflammatory arthritis, and myelodysplastic syndrome treated with Ruxolitinib.Oxford medical case reports · 2026Article
- Review
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome.Frontiers in medicine · 2026Article
- Disease-specific biomarker value of C-reactive protein and its composite indices in autoinflammatory diseases: an integrated study of multi-modal omics and population cohorts.Frontiers in immunology · 2026Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
VEXAS syndrome is an adult-onset autoinflammatory disorder caused by somatic UBA1 variants, but there are no standardized criteria for genetic testing or diagnostics. This study compared Sanger sequencing and next-generation sequencing (NGS) for detecting UBA1 variants in patients with suspected VEXAS, assessed the ability of Sanger sequencing to estimate variant allele fractions (VAFs), and evaluated the Maeda et al. scoring system for selecting patients for genetic testing in a primary cohort and a validation cohort. In the primary cohort of 104 patients, Sanger sequencing identified VEXAS variants in 12%, with no additional cases detected by NGS. Sanger sequencing accurately quantified VAFs ranging from 0.1 to 0.9. In a small longitudinal subset (n = 3), VAFs in blood correlated with CRP levels, increased over time despite various treatments, but decreased in two patients after initiation of Azacitidine treatment. The novel parameters, VAF in myeloid cells and VEXAS cell concentration, showed promise as exploratory markers for patient monitoring. The Maeda-score, requiring a threshold score of 2 for 100% sensitivity, exhibited low specificity-29% in the primary cohort and 41% in the validation cohort (n = 62, with 2 carrying VEXAS variants). In contrast, the simplified SWIM-score-based on Skin involvement, Weight loss, Inflammation, and Macrocytic anemia-achieved 100% sensitivity in both cohorts, with higher specificities of 47% and 65%, respectively. In conclusion, Sanger sequencing reliably detected UBA1 variants and quantified VAFs. Monitoring VAF and VEXAS cell concentration may track disease progression, and the SWIM-score demonstrated potential for accurately selecting patients for UBA1 testing.
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Registered trials
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