The single-cell transcriptional landscape of the pediatric cystic fibrosis airway from minimally invasive respiratory specimens

Cystic fibrosis (CF) is a multisystemic, autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with the majority of morbidity and mortality extending from lung disease. In this study, we leveraged single-cell transcriptional analyses to characterize the immune and airway epithelial cell populations in minimally invasive respiratory specimens obtained from pediatric patients with CF and pediatric non-CF controls at the time of clinically indicated flexible bronchoscopy. We focused on the pediatric population in an effort to better understand the early pathophysiology of CF lung disease. Through our approach, we provide insights into the composition of and functional changes within the immune and airway epithelial cell populations in the pediatric CF lung. Understanding the early pathophysiology of CF lung disease, including the changes present in the early cycles of airway infection, inflammation, and tissue damage, may reveal new potential therapeutic targets for CF lung disease.