Article
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Oct 2021
Ferrada Marcela A, Sikora Keith A, Luo Yiming, Wells Kristina V, Patel Bhavisha, Groarke Emma M, Ospina Cardona Daniela, Rominger Emily, Hoffmann Patrycja, Le Mimi T, Deng Zuoming, Quinn Kaitlin A, Rose Emily, Tsai Wanxia L, Wigerblad Gustaf, Goodspeed Wendy, Jones Anne, Wilson Lorena, Schnappauf Oskar, Laird Ryan S, Kim Jeff, Allen Clint, Sirajuddin Arlene, Chen Marcus, Gadina Massimo, Calvo Katherine R, Kaplan Mariana J, Colbert Robert A, Aksentijevich Ivona, Young Neal S, Savic Sinisa, Kastner Daniel L, Ombrello Amanda K, Beck David B, Grayson Peter C
Abstract excerpt
OBJECTIVE: Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsing polychondritis (RP), but clinical features that characterize VEXAS within a cohort of patients with RP have not been defined. We undertook this study to define the...
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