Results 131 to 140 of about 929 (159)
Some of the next articles are maybe not open access.
2023
variants in UBA1gene result in the production of enzyme ubiquitin activating enzyme D1 with reduced functions as a result damage protein build up inside the cells and this causes activation of immune cells or cells damage and death this leads to abnormal inflammation impaired blood cells development and other features of vexas ...
openaire +1 more source
variants in UBA1gene result in the production of enzyme ubiquitin activating enzyme D1 with reduced functions as a result damage protein build up inside the cells and this causes activation of immune cells or cells damage and death this leads to abnormal inflammation impaired blood cells development and other features of vexas ...
openaire +1 more source
An Orbital Manifestation of VEXAS Syndrome
Ophthalmic Plastic & Reconstructive Surgery, 2023VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory disorder characterized by systemic inflammation (vasculitis, arthritis, chondritis, dermatosis) and hematologic abnormalities (thrombosis, cytopenia, vacuolization of marrow precursors).
Anagha, Lokhande +3 more
openaire +2 more sources
Annals of Hematology
We report the case of the youngest patient described with VEXAS syndrome associated with MDS-IB1, successfully treated with azacitidine-venetoclax and allogeneic stem cell transplant.
Hippolyte, Guerineau +5 more
openaire +2 more sources
We report the case of the youngest patient described with VEXAS syndrome associated with MDS-IB1, successfully treated with azacitidine-venetoclax and allogeneic stem cell transplant.
Hippolyte, Guerineau +5 more
openaire +2 more sources
Is it VEXAS or is it vasculitis?
Clinical and Experimental RheumatologyVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently defined clinical entity caused by somatic mutations in UBA1, a gene encoding the ubiquitin-activating enzyme 1, the major enzyme that initiates ubiquitylation.
Megan M, Sullivan, Matthew J, Koster
openaire +2 more sources
VEXAS syndrome with cochleovestibular involvement
Auris Nasus LarynxWe report a case of VEXAS syndrome in a 71-year-old man presenting with auricular chondritis, scleritis, hearing loss, and vestibular dysfunction. Although the clinical picture initially suggested relapsing polychondritis, hematologic findings and UBA1 variant confirmed VEXAS syndrome.
Keishi Fujiwara +7 more
openaire +2 more sources
Orbital inflammation in VEXAS syndrome
British Journal of OphthalmologyIntroduction Vacuoles, E1-ligase, X-linked Auto-inflammatory, Somatic (VEXAS) syndrome is a recently described multisystem inflammatory disorder. Ocular features are described, though not well known; we aimed to describe them.
Clare Quigley +23 more
openaire +4 more sources
Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry
Annals of the Rheumatic DiseasesVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an acquired autoinflammatory monogenic disease with a poor prognosis whose determinants are not well understood. We aimed to describe serious infectious complications and their potential risk factors.Retrospective multicentre study including patients with VEXAS syndrome from ...
de Valence, Benjamin +62 more
openaire +7 more sources