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This nationwide prospective study from Japan demonstrates that the variant allele frequency (VAF) of pathogenic UBA1 mutations in peripheral blood is a significant predictor of mortality and transfusion dependence in patients with VEXAS syndrome (VS). Higher baseline VAF and higher prednisolone doses independently correlate with poorer outcomes. Notably, patients carrying the UBA1 p.Met41Leu variant showed improved survival, and a similarly poor prognosis was observed in VEXAS-like patients without identifiable UBA1 variants.
