Autoinflammatory & rare systemic diseases
Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden
Authors' conclusion
VEXAS syndrome disease severity and penetrance increase at higher VAFs.
Study context
- Population
- Participants of Geisinger MyCode Community Health Initiative and Mount Sinai BioMe Biobank with disease-causing UBA1 variantsof 192,584 sequenced
- Participants
- 23 participants
- Exposure
- High UBA1 variant allele frequency (VAF) vs low VAF
- Outcome
- Macrocytic anaemia development
Methodological detailswhole exome sequencing, two biobanks
- Whole exome sequencing
- Two biobanks
Main finding
As reported in the abstract
P = 0.009
Observational data: associations, not effects.
Further findings
| Outcome | Low VAF | P value |
|---|---|---|
| Macrocytic anaemia at time of genetic testing | 13.3% | P = 0.001 |
- Development of anaemia or thrombocytopenia · no significant difference
- P = 0.53
Original publication
Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden. Arthritis Rheumatol. Published 21 September 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →