Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …

Objectives To evaluate the effectiveness and safety of current treatment strategies for the
vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Methods A …

Background A new autoinflammatory syndrome related to somatic mutations of UBA1 was
recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X‐linked …

Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with
inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory …

UBA1 is an X-linked gene and encodes an ubiquitin-activating enzyme. Three somatic
mutations altering the alternative start codon (M41) in UBA1 in hematopoietic precursor cells …

The objective of this study is to describe the clinical features and outcomes of patients with
the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) …

Timepoint (months) 0 32 36 43 Hemoglobin (g/L) 107 101 92 188 Mean cell volume (fL)
109.1 101 99 100 Platelets (x109/L) 137 35 40 102 White blood cell (x109/L) 6.60 5.30 6.90 …

VEXAS syndrome has an unmet need for therapeutic interventions. Even if few data exist
regarding the treatment of this newly described syndrome, different options can be proposed …

Recently, a rare severe autoinflammatory disease vacuoles, E1 enzyme, X-linked,
autoinflammatory, somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene …

Somatic or acquired mutations are postzygotic genetic variations that can occur within any
tissue. These mutations accumulate during aging and have classically been linked to …