Article
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.
Respiratory medicine - 1 May 2017
Breuer Oded, Daum Hagit, Cohen-Cymberknoh Malena, Unger Susanne, Shoseyov David, Stepensky Polina, Keller Baerbel, Warnatz Klaus, Kerem Eitan
Abstract excerpt
BACKGROUND: In a substantial number of patients with non-cystic fibrosis (CF) bronchiectasis an etiology cannot be found. Various complex immunodeficiency syndromes account for a significant portion of these patients but the mechanism elucidating the predisposition for suppurative lung disease often remains unknown. OBJECTIVE: To investigate the cause and mechanism predisposing a patient to severe bronchiectasis....
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