Article
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Rheumatology (Oxford, England) - 1 Aug 2024
Maeda Ayaka, Tsuchida Naomi, Uchiyama Yuri, Horita Nobuyuki, Kobayashi Satoshi, Kishimoto Mitsumasa, Kobayashi Daisuke, Matsumoto Haruki, Asano Tomoyuki, Migita Kiyoshi, Kato Ayaka, Mori Ichiro, Morita Hiroyuki, Matsubara Akihiro, Marumo Yoshiaki, Ito Yuji, Machiyama Tomoaki, Shirai Tsuyoshi, Ishii Tomonori, Kishibe Mari, Yoshida Yusuke, Hirata Shintaro, Akao Satoshi, Higuchi Akitsu, Rokutanda Ryo, Nagahata Ken, Takahashi Hiroki, Katsuo Kosuke, Ohtani Toshio, Fujiwara Hiroshi, Nagano Hiromichi, Hosokawa Takashi, Ito Takanori, Haji Yoichiro, Yamaguchi Hiroyuki, Hagino Noboru, Shimizu Toshimasa, Koga Tomohiro, Kawakami Atsushi, Kageyama Goichi, Kobayashi Hiroshi, Aoki Akiko, Mizokami Akinari, Takeuchi Yoichi, Motohashi Rena, Hagiyama Hiroyuki, Itagane Masaki, Teruya Hiroyuki, Kato Tomohiro, Miyoshi Yuji, Kise Takayasu, Yokogawa Naoto, Ishida Takako, Umeda Naoki, Isogai Shuntaro, Naniwa Taio, Yamabe Toru, Uchino Kaori, Kanasugi Jo, Takami Akiyoshi, Kondo Yasushi, Furuhashi Kazunori, Saito Koichi, Ohno Shigeru, Kishimoto Daiga, Yamamoto Mari, Fujita Yoshiro, Fujieda Yuichiro, Araki Sachiko, Tsushima Hiroshi, Misawa Kyohei, Katagiri Akira, Kobayashi Takahiro, Hashimoto Kenichi, Sone Takehiro, Hidaka Yukiko, Ida Hiroaki, Nishikomori Ryuta, Doi Hiroshi, Fujimaki Katsumichi, Akasaka Keiichi, Amano Masako, Matsushima Hidekazu, Kashino Kaori, Ohnishi Hidenori, Miwa Yuki, Takahashi Noriyuki, Takase-Minegishi Kaoru, Yoshimi Ryusuke, Kirino Yohei, Nakajima Hideaki, Matsumoto Naomichi
Abstract excerpt
OBJECTIVES: To efficiently detect somatic UBA1 variants and establish a clinical scoring system predicting patients with pathogenic variants in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. METHODS: Eighty-nine Japanese patients with clinically suspected VEXAS syndrome were recruited [81 males and 8 females; median age of onset 69.3 years (interquartile range 62.1-77.6)]. Peptide...
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