Results 11 to 20 of about 929 (159)
Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort
Frontiers in ImmunologyVEXAS 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
Umberto Pizzano +2 more
exaly +3 more sources
A fatal case of VEXAS syndrome with a brief review [PDF]
Journal of Vascular Surgery Cases and Innovative TechniquesVEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene.
Grant Stoltman, BA +3 more
doaj +2 more sources
Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next‐Generation Sequencing [PDF]
eJHaemBackground 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
doaj +2 more sources
Zeitschrift für Rheumatologie, 2022 ZusammenfassungDas VEXAS-Syndrom ist eine neu identifizierte autoinflammatorische Systemerkrankung. Das Akronym VEXAS steht hier für Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. Die Erkrankung beruht auf einer erworbenen somatischen Mutation des UBA1-Gens.
M. Zeeck, I. Kötter, M. Krusche
openaire +2 more sources
International Journal of HematologyAbstract VEXAS syndrome is a recently identified, adult-onset autoinflammatory disease caused by somatic mutations in UBA1. UBA1 is an X-linked gene encoding E1 ubiquitin activating enzyme and its mutation in hematopoietic stem and progenitor cells leads to their clonal expansion and myeloid-skewed differentiation. UBA1 mutations in VEXAS are
Hideaki Nakajima, Hiroyoshi Kunimoto
+9 more sources
Thrombosis in VEXAS syndrome [PDF]
Journal of Thrombosis and Thrombolysis, 2021 VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed venous thromboembolism (VTE).
Thet Mon Oo +5 more
openaire +2 more sources
Navigating through uncertainty-Experience from the UK national VEXAS MDT. [PDF]
Br J HaematolSummary The objective of this study was to describe the establishment, structure and influence of the United Kingdom national multidisciplinary team (MDT) for vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome and to assess its clinical outputs and perceived value among participating clinicians.
Pietsch D +3 more
europepmc +2 more sources
Blood, 2021 VEXAS syndrome is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients present with a range of inflammatory and hematologic symptoms (Visual Abstract). Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments,
Grayson, Peter C. +2 more
openaire +2 more sources
Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome
Experimental Hematology & Oncology, 2022 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
doaj +1 more source
RMD Open, 2022 Objective A new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic).
Vincent Jachiet +22 more
doaj +1 more source