Results 131 to 140 of about 954 (158)
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Joint Bone Spine
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system.
Mohamed-Yacine, Khitri +3 more
openaire +2 more sources
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system.
Mohamed-Yacine, Khitri +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.
Aurélie Cabannes-Hamy +1 more
exaly +3 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.
Aurélie Cabannes-Hamy +1 more
exaly +3 more sources
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
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
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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