VEXAS syndrome is a clinically heterogeneous inflammatory condition caused by mutations in the UBA1 gene. Here, by single cell transcriptomics on peripheral blood cells from VEXAS patients, the authors reveal innate and adaptive immune dysregulations irrespective of UBA1 mutations, including the presence of functionally impaired monocytes and clonal expansion of UBA1 wild-type effector memory B cells and plasmablasts.
- Hiroki Mizumaki
- Shouguo Gao
- Bhavisha A. Patel
