Different genes related to alveolar stability have been associated with familial interstitial
pneumonia (FIP). Here, we report a novel, rare SFTPA1 variant in a family with idiopathic …

Idiopathic interstitial pneumonias (IIPs) are diffuse lung diseases of unknown cause and
high mortality. Up to 20% of patients with IIP report having one or more family members with …

Idiopathic interstitial pneumonias (IIPs) comprise a heterogeneous group of rare lung
parenchyma disorders with high morbidity and mortality, which can occur at all ages. In …

Background Idiopathic pulmonary fibrosis (IPF) is a serious disorder with a high mortality
rate worldwide. It is characterized by irreversible scarring of the lung parenchyma resulting …

Background Idiopathic pulmonary fibrosis (IPF) is a chronic inflammatory interstitial lung
disease with an unknown cause. Recent studies have shown that genetic factors play an …

Interstitial pneumonias have recently been associated with mutations in the gene encoding
surfactant protein C (SFTPC). In particular, SFTPC mutations have been reported in a …

The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly
appreciated. Monogenic disorders associated with IPF affect two pathways: telomere …

Biallelic pathogenic variants in the surfactant protein (SP)-B gene (SFTPB) have been
associated with fatal forms of interstitial lung diseases (ILD) in newborns and exceptional …

In this issue of the Journal, van Moorsel and colleagues (pp. 1419–1425) report findings of
surfactant protein C (SFTPC) mutations in a cohort of patients with idiopathic interstitial …

Recent studies have suggested that some cases of familial interstitial pneumonia are
associated with mutations in the gene encoding surfactant protein C (SFTPC). We report …