Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge
This case represents one of the youngest patients reported with VEXAS syndrome and provides rare evidence of UBA1 mutation in pulmonary cells, supporting the concept of tissue-level clonal inflammation. It highlights the importance of considering VEXAS in younger patients with unexplained systemic inflammation, cytopenias, and non-infectious pulmonary infiltrates, and supports early genetic testing and multidisciplinary management.
Authors
- Min Shen (ORCID: https://orcid.org/0000-0001-9050-3768)
- Jin Xu (ORCID: https://orcid.org/0000-0002-8130-1555)
- Jiayuan Dai
- Miao Chen
- Xianghong Jin
- Xianyong Jiang
- Yaping Liu
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2026-02-03
- DOI
- https://doi.org/10.3389/fimmu.2026.1737665
- Primary Topic
- Otitis Media and Relapsing Polychondritis
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Peking Union Medical College Hospital
- Peking Union Medical College