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 …

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 …

Summary VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …

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 …

Abstract VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a
newly identified disease caused by somatic alterations in UBA1 which produce a recalcitrant …

Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of
the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy …

Abstract Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS)
syndrome is a recently recognized multisystem disorder caused by somatic mutations in the …

Objectives To efficiently detect somatic UBA1 variants and establish a clinical scoring
system predicting patients with pathogenic variants in VEXAS (vacuoles, E1 enzyme, X …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …