Caroline Kannengiesser

Mar 16, 2023 | erj.ersjournals.com | Raphael Borie |Caroline Kannengiesser |Francesco Bonella |Bruno Crestani

IntroductionGenetic predisposition to pulmonary fibrosis is suggested by a 10-fold increase in disease prevalence in families of patients with a diagnosis of idiopathic pulmonary fibrosis (IPF) [1–3]. Initial studies of familial clustering of interstitial lung disease (ILD) led to the discovery of mutations in genes implicated in telomere homeostasis (telomere-related genes (TRGs)) and surfactant homeostasis (surfactant-related genes (SRGs)) (table 1 and ) [3, 4].