Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis

CONCLUSIONS: WFDC2 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. This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).PMID:38626355 | DOI:10.1164/rccm.202308-1370OC

Source: Am J Respir Crit Car... - April 16, 2024 Category: Intensive Care Authors: Gerard W Dougherty Lawrence E Ostrowski Tabea N öthe-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 Source Type: research