Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Heike Olbrich, Weining Yin, Patrick R Sears, Hong Dang, Amanda J Smith, Achim G Beule, Rim Hjeij, Niels Rutjies, Eric G Haarman, Saskia M Maas, Thomas W Ferkol, Peadar G Noone, Kenneth N Olivier, Diana C Bracht, Pascal Barbry, Laure-Emmanuelle Zaragosi, Morgane Fierville, Sabine Kliesch, Kai Wohlgemuth, Julia König, Sebastian George, Niki T Loges, Agathe Ceppe, Matthew R Markovetz, Hong Luo, Ting Guo, Hoda Rizk, Tarek Eldesoky, Katrin Dahlke, Karsten Boldt, Marius Ueffing, David B Hill, Yuan-Ping Pang, Michael R Knowles, Maimoona A Zariwala, Heymut Omran
RATIONALE: Bronchiectasis is a pathological dilatation of the bronchi in the respiratory airways associated with environmental or genetic causes (e.g., cystic fibrosis, primary ciliary dyskinesia and primary immunodeficiency disorders), but most cases remain idiopathic. OBJECTIVES: To identify novel genetic defects in unsolved cases of bronchiectasis presenting with severe rhinosinusitis, nasal polyposis, and pulmonary Pseudomonas aeruginosa infection. METHODS: DNA was analyzed by next-generation or targeted Sanger sequencing...
April 16, 2024: American Journal of Respiratory and Critical Care Medicine