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.

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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

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article

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge

Min Shen, Jin Xu, Jiayuan Dai, Miao Chen et al.
Frontiers in Immunology
Otitis Media and Relapsing Polychondritis
article

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge

Min Shen, Jin Xu, Jiayuan Dai, Miao Chen, Xianghong Jin, Xianyong Jiang, Yaping Liu
article en

Abstract

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.

Frontiers in ImmunologyVol. 17
Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Peking Union Medical College Hospital (CN)
Peking Union Medical College Hospital, Peking Union Medical College
Good health and well-being
Openalex Percentile: Top 69%
Otitis Media and Relapsing Polychondritis
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Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge — Min Shen, Jin Xu, et al. · Frontiers in Immunology (2026) | TGRS Research Map | TGRS