Transcriptomic profiling of VEXAS syndrome patients. Transcriptomic profiling of VEXAS syndrome patients

UBA1 is an E1 enzyme essential for initiating ubiquitylation. We have identified 25 patients with somatic mutations in UBA1 that alter protein isoform expression in myeloid cells. We studied the transcriptional profiles of whole blood, and sorted cell populations from VEXAS patients. Overall design: RNAseq using the whole blood and isolated cell populations from VEXAS patients