# VEXAS syndrome: cutaneous manifestations and UBA1 gene variants in the diagnosis of a rare autoinflammatory syndrome – Case report

**Authors:** Isabel Crivelatti, Shirley Massimo de Souza, Oscar Cardoso Dimatos, Gabriella Di Giunta Funchal, Andressa Miozzo Soares, Amanda Amaro Pereira

PMC · DOI: 10.1016/j.abd.2025.501233 · Anais Brasileiros de Dermatologia · 2025-11-03

## Full-text entities

- **Genes:** UBA1 (ubiquitin like modifier activating enzyme 1) [NCBI Gene 7317] {aka A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1}
- **Diseases:** VEXAS syndrome (MESH:C000721467), autoinflammatory syndrome (MESH:D056660)

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## References

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Source: https://tomesphere.com/paper/PMC12634494