Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis.

Naomi Tsuchida Yosuke Kunishita Yuri Uchiyama Yohei KirinoMakiko EnakaYukie Yamaguchi Masataka TaguriShoji YamanakaKaoru Takase-Minegishi Ryusuke YoshimiSatoshi FujiiHideaki Nakajima Naomichi Matsumoto

Published in: Annals of the rheumatic diseases (2021)

Genetic screening for pathogenic UBA1 variants should be considered in patients with RP, especially male patients with skin lesions. The somatic variant in UBA1 in the female patient is the first to be reported.

Keyphrases

copy number
case report
genome wide
multiple sclerosis
dna methylation
disease activity
rheumatoid arthritis