The first case of VEXAS syndrome in Austria.

In a comparison study, they investigated the proportions of vacuolated precursor hematopoietic cells in six VEXAS patients with UBA1 mutations vs. 18 MDS patients. Keywords: myelodysplastic; VEXAS syndrome EN myelodysplastic VEXAS syndrome e187 e188 2 08/22/23 20230901 NES 230901 To the Editor, We present a patient who was diagnosed with myelodysplastic syndrome (MDS) seven years ago. Those new evaluations prompted us to perform molecular genetic analysis of I UBA1 i gene that revealed a I UBA1 c.121A>C (p.Met41Leu) i mutation with a variant allele frequency of 62 %; this led to the diagnosis of VEXAS syndrome [[2]]. [Extracted from the article]