Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00277-022-04818-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice.
J Clin Invest
September 2025
Tianjin Key Laboratory of Inflammatory Biology, Department of Pharmacology, School of Basic Medical Science, Tianjin Medical University, Tianjin, China.
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a haemato-rheumatoid disease caused by somatic UBA1 mutations in hematopoietic stem cells (HSCs). The pathogenic cell type(s) responsible for the syndrome are unknown and murine models recapitulating the disease are lacking. We report that loss of Uba1 in various mouse hematopoietic cell types resulted in pleiotropic consequences and demonstrate that murine mutants with about 70% loss of Uba1 in neutrophils induced non-lethal VEXAS-like symptoms.
View Article and Find Full Text PDF[VEXAS-like auto inflammatory syndrome: 2 cases].
Rev Med Interne
March 2025
Service de médecine interne, CHI Poissy-St Germain, 10, rue du Champs Gaillard, 78300 Poissy, France.
Introduction: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recently described, due to a somatic mutation of the UBA1 gene and often associated with hemopathy, is characterized by systemic symptoms close to those described in Still's disease or relapsing polychondritis. There are also patients with hemopathy, presenting inflammatory symptoms reminiscent of those of VEXAS syndrome but without mutation of the UBA1 gene.
Case/discussion: Two male patients consulted for general signs, dermatological symptoms, arthralgia, chondritis and venous thrombosis, like patients in the French cohort suffering from VEXAS syndrome.
Vacuoles in circulating immature myeloid cells in VEXAS syndrome and comparison with UBA1-wild type patients.
Am J Hematol
February 2024
Mitolab, MitoVasc Unit, INSERM U1083, CNRS UMR6015, Angers University, Angers, France.
We did not identify any vacuole-related differences in circulating immature myeloid cells between VEXAS patients and UBA1-WT 'VEXAS-like' patients. The similar vacuolization of circulating immature myeloid cells between VEXAS and UBA1-WT patients is explained by the main bloodstream passage of late precursors, in which the vacuolization is already similar in bone marrow in both cases.
View Article and Find Full Text PDFAn update on VEXAS syndrome.
Expert Rev Clin Immunol
February 2023
Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals, NHS Trust, Leeds, UK.
Article Synopsis
- VEXAS syndrome is a newly identified inflammatory disorder linked to gene mutations, characterized by both inflammatory symptoms and blood-related issues, leading to complications in multiple organs and decreased life expectancy.
- The review highlights the discovery of VEXAS, the genetics and immune response associated with it, as well as its diverse clinical presentations and how it can resemble other diseases.
- Experts emphasize the need for standardized diagnostic criteria, in-depth genetic analysis for sporadic cases, and more research to establish effective treatment strategies and selection criteria for stem cell transplants in affected patients.
VEXAS-like syndrome: a potential new entity?
Ann Hematol
May 2022
Division of Hematology and BMT, A.O.U. 'Policlinico-San Marco', Catania, Italy.