VEXAS Syndrome: A Novelty in MDS Landscape
Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1 ...
Marie Templé, Olivier Kosmider
doaj +3 more sources
Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome. [PDF]
eJHaem, Volume 7, Issue 1, February 2026.
Suárez EU +2 more
europepmc +2 more sources
A patient with VEXAS syndrome presenting with complete ophthalmoplegia [PDF]
Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified, somatic mutation-driven, autoinflammatory syndrome primarily affecting older males.
James Krzowski +3 more
doaj +2 more sources
VEXAS Syndrome for the laboratory physician: a case report [PDF]
IntroductionVEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome represents a recently identified systemic condition, and its diagnosis and management carry significant clinical ramifications.
Chaoying Chen +7 more
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Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study. [PDF]
Objective The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Methods This multicenter international study includes patients with VEXAS from France, Israel, and Italy treated with ...
Eviatar T +35 more
europepmc +2 more sources
VEXAS Syndrome and Alzheimer’s Disease—Are There Connections? [PDF]
VEXAS syndrome and Alzheimer’s disease (AD), though distinct in clinical manifestations, share overlapping pathophysiological mechanisms, including systemic inflammation, protein misfolding, and vascular dysfunction.
Aleksandra Sowa +4 more
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Is immunotherapy safe and effective in patients with VEXAS syndrome? [PDF]
The use of immune checkpoint inhibitors in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is unknown. Concerns are particularly about their safety, due to their potential capacity to exacerbate inflammatory symptoms.
Chiara Marvisi +9 more
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Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next‐Generation Sequencing [PDF]
Background VEXAS syndrome is an adult‐onset, X‐linked autoinflammatory disorder resulting from somatic variations in the UBA1 gene. Aim To evaluate the adequacy of the digital PCR (dPCR) to follow up the variant allele frequency (VAF) on response to the ...
Alba Exposito‐Bey +4 more
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Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort
VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS
Elisa Diral +24 more
doaj +3 more sources
Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is ...
Valentin Lacombe +6 more
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