Rev Mal Respir 2022 Jun 14. Epub 2022 Jun 14.
Service de Pneumologie A, Centre de compétences maladies pulmonaires rares, AP-HP, Hôpital Bichat, Paris, France.; INSERM, Unité 1152; Université Paris Diderot, Paris, France.
Genetic studies of familial forms of interstitial lung disease (ILD) have led to the discovery of telomere-related gene (TRG) mutations (TERT, TERC, RTEL1, PARN, DKC1, TINF2, NAF1, NOP10, NHP2, ACD, ZCCH8) in approximately 30% of familial ILD forms. ILD patients with TRG mutation are also subject to extra-pulmonary (immune-hematological, hepatic and/or mucosal-cutaneous) manifestations. TRG mutations may be associated not only with idiopathic pulmonary fibrosis (IPF), but also with non-IPF ILDs, including idiopathic and secondary ILDs, such as hypersensitivity pneumonitis (HP). Read More