Somatic Mutations in <i>UBA1</i> Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

Abstract

Mutations in UBA1 were causal for disease in a subset of patients with RP. This subset of patients was defined by disease onset in the fifth decade of life or later, male sex, ear/nose chondritis, and hematologic abnormalities. Early identification is important in VEXAS given the associated high mortality rate.