Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

ConclusionMutations inUBA1 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.

Source: Arthritis and Rheumatology - August 31, 2021 Category: Rheumatology Authors: Marcela A. Ferrada, Keith A. Sikora, Yiming Luo, Kristina V. Wells, Bhavisha Patel, Emma M. Groarke, Daniela Ospina Cardona, Emily Rominger, Patrycja Hoffmann, Mimi T. Le, Zuoming Deng, Kaitlin A. Quinn, Emily Rose, Wanxia L. Tsai, Gustaf Wi Tags: Original Article Source Type: research