Academic Journal

Challenging the paradigm: a case of early-onset VEXAS syndrome.

التفاصيل البيبلوغرافية
العنوان: Challenging the paradigm: a case of early-onset VEXAS syndrome.
المؤلفون: Sánchez-Hernández, Beatriz E, Calderón-Espinoza, Ivette, Martín-Nares, Eduardo
المصدر: Rheumatology; Mar2024, Vol. 63 Issue 3, pe99-e100, 2p
مصطلحات موضوعية: 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
مستخلص: 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.
قاعدة البيانات: Complementary Index
الوصف
تدمد:14620324
DOI:10.1093/rheumatology/kead506