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.

Keywords: Interstitial pneumonia; Lung transplantation; Pulmonary interstitial fibrosis; SAVI; STING1.