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- Title
Challenging the paradigm: a case of early-onset VEXAS syndrome.
- Authors
Sánchez-Hernández, Beatriz E; Calderón-Espinoza, Ivette; Martín-Nares, Eduardo
- Abstract
The article describes a case of a male patient with early-onset of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Topics mentioned include the link of somatic mutations in blood cells with systemic inflammation, the treatment of the syndrome using topical non-sterioidcal anti-inflammatory drugs, and the clinical and genetic characteristics of the syndrome.
- Subjects
X-linked genetic disorders; GENETIC mutation; SEQUENCE analysis; LEFLUNOMIDE; NONSTEROIDAL anti-inflammatory agents; GENETIC testing; ALLELES; CARTILAGE diseases; SENSORINEURAL hearing loss; AGE factors in disease; COLCHICINE; PREDNISONE; BLOOD testing; ARTHRITIS; AUTOINFLAMMATORY diseases; SYMPTOMS; ADULTS
- Publication
Rheumatology, 2024, Vol 63, Issue 3, pe99
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/kead506