Results 1 to 10 of about 921 (136)
VEXAS Syndrome and Alzheimer’s Disease—Are There Connections? [PDF]
Brain SciencesVEXAS 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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VEXAS Syndrome: A Novelty in MDS Landscape
Diagnostics, 2022 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
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Global Medical Genetics, 2023 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
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Vasculitis associated with VEXAS syndrome: A literature review
Frontiers in Medicine, 2022 Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide variety of organs through tissue ischemia. Vasculitis is classified according to the size (large, medium, or small) of the blood vessels.
Ryu Watanabe +2 more
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VEXAS syndrome with cutaneous nodules
Dermatology Reports, 2021 Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
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VEXAS syndrome: a diagnostic puzzle
RMD Open, 2023 The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells.
Martin Krusche, Nikolas Ruffer
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Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China [PDF]
Orphanet Journal of Rare DiseasesBackground VEXAS syndrome is a severe autoinflammatory disease characterized by systemic inflammation, rheumatic manifestations, and hematologic abnormalities. Its clinical heterogeneity and overlap with other conditions complicate diagnosis.
Menghui Yao +14 more
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Neutrophils take center stage in VEXAS syndrome pathogenesis [PDF]
The Journal of Clinical InvestigationVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by somatic UBA1 mutations in hematopoietic stem cells. UBA1 encodes a key enzyme that catalyzes protein ubiquitination.
Ajay Tambralli, Jason S. Knight
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