Abstract Vacuolation, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is
a multisystem disease due to a genetic mutation in the ubiquitin-activating enzyme (UBA1) …

UBA1, an X-linked gene, encodes one of the only two ubiquitin E1 enzymes, playing a
pivotal role in initiating one of the most essential post-translational modifications. In late …

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a late-
onset autoinflammatory condition in adults caused by acquired UBA1 mutations in …

VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1
gene, has emerged as a key model for unraveling the links between systemic inflammatory …

VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic
mutations in the UBA1 X-linked gene in hematopoietic progenitor cells. Several studies have …

In the current review, we discuss the novelties for VEXAS, including pathogenic pathways,
epidemiological data, diagnostic criteria and algorithms, treatment options and …

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly
diagnosed syndrome comprising severe systemic inflammatory and hematological …

Summary Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) is a haemato‐
inflammatory syndrome genetically defined by somatic mutations in the X‐linked UBA1 …

In this issue of Blood, Sirenko et al 1 report the prevalence of UBA1 mutations in 2 cohorts of
patients with myelodysplastic syndrome (MDS) and demonstrate their enrichment in males …

Myeloid neoplasms originate from the clonal proliferation of hematopoietic stem cells, which
is driven by the acquisition of somatic genetic mutations. Within these disorders …