Peripheral blood UBA1 variant burden predicts poor outcomes in VEXAS syndrome: a nationwide prospective study - PubMed
5 hours ago
- #prognostic biomarker
- #VEXAS syndrome
- #UBA1 variant
- The study identifies baseline pathogenic UBA1 variant allele frequency (VAF) as a prognostic biomarker for poor outcomes in VEXAS syndrome.
- Higher baseline VAF and higher prednisolone dose independently predict poor prognosis (death or transfusion dependence).
- Patients with the UBA1 p.Met41Leu variant show better survival after adjusting for disease onset.
- Grade ≥3 adverse events occurred in 50% of patients within one year.
- VEXAS-like patients without UBA1 variants also had similarly poor prognosis.