Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients with VEXAS Syndrome
ConclusionMutations inUBA1 are causal for disease in a subset of patients with RP. These patients are 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 - 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
More News: Allergy & Immunology | Anemia | Arthritis | Genetics | Hematology | Myelodysplastic Syndrome | Myeloma | Polychondritis | Pulmonary Thromboembolism | Rheumatology | Skin | Thrombocytopenia | Thrombosis