Publications by authors named "Paola Marianetti-Guingel"
Background: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment.
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- A new autoinflammatory syndrome called VEXAS has been identified and compared to idiopathic-relapsing polychondritis (I-RP) in terms of clinical features and outcomes.
- Patients with VEXAS-RP tend to be older, predominantly male, and exhibit more severe symptoms, such as fever, skin and ocular issues, and pulmonary problems compared to I-RP patients.
- VEXAS-RP is associated with a higher risk of death and more frequent refractory disease, highlighting the serious nature of this syndrome as opposed to I-RP.