Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Gerard W. Dougherty, Lawrence E. Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Heike Olbrich, Weining Yin, Patrick R. Sears, Hong Dang, Amanda Smith, Achim G. Beule, Rim Hjeij, Niels W. Rutjes, Eric G. Haarman, Saskia M. Maas, Thomas W. Ferkol, Peadar G. Noone, Kenneth N. Olivier, Diana 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 El-Desoky, Katrin Dahlke, Karsten Boldt, Marius Ueffing, David B. Hill, Yuan‐Ping Pang, Michael R. Knowles, Maimoona A. Zariwala, Heymut Omran
Abstract
dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis.