VEXAS syndrome
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
An update on VEXAS syndrome
A Al-Hakim, S Savic - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients
S Georgin‐Lavialle, B Terrier… - British Journal of …, 2022 - academic.oup.com
Background A new autoinflammatory syndrome related to somatic mutations of UBA1 was
recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X‐linked …
recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X‐linked …
Clinical heterogeneity of the VEXAS syndrome: a case series
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) …
the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) …
VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-
onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked …
onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked …
VEXAS syndrome: a case series from a single‐center cohort of Italian patients with vasculitis
Objective To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X‐linked,
autoinflammatory, somatic syndrome) from a single‐center cohort of Italian patients with …
autoinflammatory, somatic syndrome) from a single‐center cohort of Italian patients with …
Toward a pathophysiology inspired treatment of VEXAS syndrome
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 …
regarding the treatment of this newly described syndrome, different options can be proposed …
Tocilizumab in VEXAS relapsing polychondritis: a single-center pilot study in Japan
Y Kirino, K Takase-Minegishi, N Tsuchida… - Annals of the …, 2021 - ard.bmj.com
Recently, a rare severe autoinflammatory disease vacuoles, E1 enzyme, X-linked,
autoinflammatory, somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene …
autoinflammatory, somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene …
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
Summary VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …
pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin …
Clonal hematopoiesis, inflammation, and hematologic malignancy
R Kanagal-Shamanna, DB Beck… - Annual Review of …, 2024 - annualreviews.org
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 …
tissue. These mutations accumulate during aging and have classically been linked to …