Bilateral lung transplantation for severe lung disease caused by a STING1 mutation: A case report
Abstract
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory syndrome caused by mutations in the stimulator of interferon response cGAMP interactor 1 (STING1) gene, leading to lung and vascular injury. Most patients with SAVI develop disease in childhood or adolescence and rapidly progress to respiratory involvement, primarily interstitial pneumonia (IP) and/or pulmonary interstitial fibrosis (PIF), which may culminate in irreversible end-stage lung disease and respiratory failure. Currently, conventional medical treatments are controversial and challenging, with variable and generally unsatisfactory clinical efficacy. Lung transplantation (LT) remains the most effective strategy to prevent disease progression and improve respiratory function in patients with severe pulmonary involvement. We report in detail the clinical course of a 28-year-old adult patient with SAVI caused by a STING1 mutation, with adult-onset disease that rapidly progressed to severe lung injury requiring bilateral LT. Following transplantation, the patient experienced marked improvement of respiratory symptoms, including chest tightness, shortness of breath, and dyspnea, and was able to move freely without ventilator support.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Penicillins for Treatment of Pneumococcal Pneumonia: Does In Vitro Resistance Really Matter?
- Thiophenes—Naturally Occurring Plant Metabolites: Biological Activities and In Silico Evaluation of Their Potential as Cathepsin D Inhibitors
- Inhalable Mannosylated Rifampicin–Curcumin Co-Loaded Nanomicelles with Enhanced In Vitro Antimicrobial Efficacy for an Optimized Pulmonary Tuberculosis Therapy
- Development and validation of microbial bioassay for quantification of Levofloxacin in pharmaceutical preparations
- GC-MS Analysis and Biomedical Therapy of Oil from n-Hexane Fraction of Scutellaria edelbergii Rech. f.: In Vitro, In Vivo, and In Silico Approach
- Propranolol, chlorpromazine and diclofenac restore susceptibility of extensively drug-resistant (XDR)-Acinetobacter baumannii to fluoroquinolones
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.