Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Gerard W DoughertyLawrence E OstrowskiTabea Nöthe-MenchenJohanna RaidtAndre SchrammHeike OlbrichWeining YinPatrick R SearsHong DangAmanda J SmithAchim G BeuleRim HjeijNiels RutjesEric G HaarmanSaskia M MaasThomas W FerkolPeadar G NooneKenneth N OlivierDiana C BrachtPascal BarbryLaure-Emmanuelle ZaragosiMorgane FiervilleSabine KlieschKai WohlgemuthJulia KönigSebastian GeorgeNiki T LogesAgathe CeppeMatthew R MarkovetzHong LuoTing GuoHoda RizkTarek EldesokyKatrin DahlkeKarsten BoldtMarius UeffingDavid B HillYuan-Ping PangMichael R KnowlesMaimoona A ZariwalaHeymut OmranPublished in: American journal of respiratory and critical care medicine (2024)
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/).