학술논문
Extensive Multiple Organ Involvement in VEXAS Syndrome.
Document Type
Case Study
Author
Source
Subject
*SEQUENCE analysis
*BIOPSY
*GENETIC mutation
*INFLAMMATION
*GENETIC disorders
*MULTIPLE organ failure
*MAGNETIC resonance imaging
*MONOCLONAL antibodies
*RADIONUCLIDE imaging
*COMPUTED tomography
*ETANERCEPT
*DISEASE complications
*MIDDLE age
*
*
*
*
*
*
*
*
*
*
*
*
Language
ISSN
2326-5191
Abstract
The article presents a case study of a 55-year-old Japanese man, was diagnosed as having VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome), which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations. Topics include the fever after the onset of systemic arthralgia, scleritis, and the optic perineuritis in the right eye has confirmed with T1-weighted contrast-enhanced magnetic resonance and myelodysplastic syndrome.