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A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome. [PDF]
Wilson C +3 more
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Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study. [PDF]
Eviatar T +35 more
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Archives of Dermatological Research, 2022
Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein.
Vince Afsahi +2 more
openaire +2 more sources
Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein.
Vince Afsahi +2 more
openaire +2 more sources
Thrombotic manifestations of VEXAS syndrome
Seminars in Hematology, 2021VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory syndrome characterized by diffuse inflammatory manifestations, predisposition to hematological malignancy, and an association with a high rate of thrombosis.
Emma Groarke, Yogendra Kanthi
exaly +3 more sources
Pulmonary manifestations in VEXAS syndrome
Respiratory Medicine, 2023Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the UBA1 gene.A retrospective cohort study was conducted on all patients with VEXAS syndrome evaluated at our institution from June 2020 through May 2022.
Jay Ryu +2 more
exaly +3 more sources
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

