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

Marcela A FerradaKeith A SikoraYiming LuoKristina V WellsBhavisha PatelEmma M GroarkeDaniela Ospina CardonaEmily RomingerPatrycja HoffmannMimi T LeZuoming DengKaitlin A QuinnEmily RoseWanxia L TsaiGustaf WigerbladWendy GoodspeedAnne JonesLorena WilsonOskar SchnappaufRyan S LairdJeff KimClint AllenArlene SirajuddinMarcus ChenMassimo GadinaKatherine R CalvoMariana J KaplanRobert A ColbertIvona AksentijevichNeal S YoungSinisa SavicDaniel L KastnerAmanda K OmbrelloDavid B BeckPeter C Grayson

Published in: Arthritis & rheumatology (Hoboken, N.J.) (2021)

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.

Keyphrases

end stage renal disease
multiple sclerosis
ejection fraction
newly diagnosed
prognostic factors
risk factors
cardiovascular disease
gene expression
coronary artery disease
rheumatoid arthritis