TERT and combined pulmonary fibrosis-emphysema syndrome: Although several gene mutations have been associated with CPFE, including telomerase genes [TERT or TR (also known as TERC)], surfactant protein C (SFTPC) and ATP binding cassette subfamily A member 3 (ABCA3), these have been performed in very small familial cohorts (TERT/TR) or in case studies (SFTPC/ABCA3) (Lin and Jiang, 2015).