Article
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
International journal of hematology - 1 Oct 2023
Kunimoto Hiroyoshi, Miura Ayaka, Maeda Ayaka, Tsuchida Naomi, Uchiyama Yuri, Kunishita Yosuke, Nakajima Yuki, Takase-Minegishi Kaoru, Yoshimi Ryusuke, Miyazaki Takuya, Hagihara Maki, Yamazaki Etsuko, Kirino Yohei, Matsumoto Naomichi, Nakajima Hideaki
Abstract excerpt
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a new disease entity with autoinflammatory disorders (AID) driven by somatic variants in UBA1 that frequently co-exists with myelodysplastic syndromes (MDS). Clinicopathological and molecular features of Japanese cases with VEXAS-associated MDS remain elusive. We previously reported high prevalence of UBA1 variants in Japanese patients...
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