Table 1.

Rare telomere related gene mutations and ILDs.

Disease	Gene	Reference
Familial IPF	TERT, TERC, DKC1, TINF2, RTEL1, PARN	Armanios et al. [18], Cronkhite et al. [13], Diaz de Leon et al. [14], Stuart et al. [51], Kannengiesser et al. [52], Cogan et al. [53], Kropski et al. [54], Kropski et al. [55], Alder et al. [56], Borie et al. [60]
Sporadic IPF	TERT, TERC, RTEL1, PARN	Cronkhite et al. [13], Diaz de Leon et al. [14], Dressen et al. [59], Petrovski et al. [61], Newton et al. [15], Borie et al. [16]
NSIP	TERT	Newton et al. [15]
DIP	TERT	Newton et al. [15]
PPFE	TERT, TERC, RTEL1	Newton et al. [15], Nunes et al. [64]
Unclassifiable ILD	TERT, TERC, RTEL1, PARN	Newton et al. [15]
CHP	TERT, TERC, RTEL1, PARN, DKC1	Newton et al. [15], Borie et al. [16], Ley et al. [63]
CTD-ILD	TERT, TERC, RTEL1	Newton et al. [15]
IPAF	TERT, RTEL1, PARN	Newton et al. [15], Borie et al. [16]
RA-ILD	TERT, RTEL1, PARN	Borie et al. [16], Juge et al. [62]
Sarcoidosis	RTEL1	Borie et al. [16]
Pneumoconiosis	RTEL1	Borie et al. [16]

IPF: Idiopathic pulmonary fibrosis, NSIP: Nonspecific interstitial pneumonia, DIP: Desquamative interstitial pneumonia, PPFE: Pleuroparenchymal fibroelastosis, ILD: Interstitial lung disease, CHP: Chronic hypersensitivity pneumonitis, CTD-ILD: Connective tissue disease associated interstitial lung disease, IPAF: Interstitial pneumonia with autoimmune features, RA-ID: Rheumatoid arthritis associated interstitial lung disease.