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Updated: Aug 2, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Pulmonary manifestations in VEXAS syndrome
Marta Casal Moura1, Misbah Baqir1, Yasmeen K Tandon2
1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Mayo Clinic College of Medicine and Science, Rochester, MN, USA.
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, caused by UBA1 gene mutations, presents with common pulmonary symptoms. Treatment involves glucocorticoids, with some patients benefiting from tocilizumab or JAK inhibitors.
Area of Science:
- Genetics
- Immunology
- Pulmonology
Background:
- Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently identified multisystemic autoinflammatory disorder.
- It is characterized by somatic mutations in the UBA1 gene, affecting the E1 enzyme.
Purpose of the Study:
- To investigate the clinical characteristics and pulmonary manifestations of VEXAS syndrome.
- To evaluate the treatment responses in patients with VEXAS syndrome.
Main Methods:
- Retrospective cohort study of patients evaluated between June 2020 and May 2022.
- Review of medical records and chest imaging studies.
- Analysis of clinical features, genetic mutations, and treatment outcomes.
Main Results:
- 45 male patients (median age 68 years) were identified, with 84% having UBA1 p.Met41 mutations.
- Common symptoms included fever (82%), skin lesions (91%), and respiratory issues (93%).
- Chest CT revealed abnormalities in 91%, with parenchymal opacities (74%) and mediastinal lymphadenopathy (29%).
Conclusions:
- Pulmonary manifestations in VEXAS syndrome are generally nonspecific and mild.
- These manifestations occur within a context of systemic inflammation.
- Pulmonary involvement shows responsiveness to glucocorticoid therapy escalation and targeted immunomodulators.
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