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5906: Cross-sectional study defining the genetic bases of non-cystic fibrosis suppurative lung diseases and bronchiectasis, focusing on primary ciliary dyskinesia and primary immunodeficiencies


A collaboration between pulmonologists and immunologists across the consortium, the project will systematically characterize the clinical phenotype and laboratory profile of patients with chronic suppurative respiratory diseases that are typically referred to pediatric and adult pulmonologists. A primary goal of this project is to identify the genetic basis of suppurative respiratory disease, including those with primary ciliary dyskinesia, primary immunodeficiencies, and other genetic disorders that interfere with airway defenses in patients without a confirmed genetic cause for their disease. This one-visit study includes a comprehensive medical history, physical exam, spirometry, nasal nitric oxide measurements, laboratory testing for genetics and immunologic evaluation, and a chest CT.