TABLE 4

Features of patients with dyskeratosis congenita and pulmonary disease

NCI UPN	Gene	Age at diagnosis years	Age at PFT years	D_LCO	Spirometry	Age at HCT years	HCT regimen	Age at PD years	Pulmonary symptoms	HRCT scan lungs	AVM	Outcome
160-1	TINF2	3.6	6.6	65%	Restrictive	9.5	Cy/Flu/TBI	12	Dyspnoea, ↓S_O₂	Bibasilar fibrosis progressed over 2 years with features of UIP	No	Died from pulmonary fibrosis, age 14 years
216-1	AR-RTEL1	6	8.9	51%	Obstructive	9.1	Cy/Flu/Bu	14	Dyspnoea, ↓S_O₂, worse with exercise	Interstitial changes with ground-glass opacities mainly in apices c/w NSIP; 2 AVMs	Yes, large	Pulmonary AVM coiled at age 17 years; alive age 18 years
145-1	TINF2	3	9.5	62%	Normal	10.9	Cy/Flu/Bu	15	Dyspnoea, ↓S_O₂	Normal	Yes, liver	Died from HPS, age 16 years
87-1	DKC1	3	10.6	49%	Restrictive	16.2	Cy/Flu/TBI	17	Cough, air hunger	Patchy ground-glass opacities with honeycombing c/w UIP	No	Died from pulmonary fibrosis, age 18 years
297-2	AR-RTEL1	14	18.3	61%	Restrictive	19.3	Flu/C/TBI	22	Dyspnoea, ↓S_O₂	Numerous small micronodular opacities c/w hypersensitive pneumonitis; linear opacities c/w mild interstitial fibrosis	Yes, portal	Alive with pulmonary symptoms, age 23 years
204-1^#	TINF2	3	12.7	<40%	Restrictive	4.2	Cy/ATG	11	Cough, air hunger	Multifocal areas of reticular and ground-glass opacities with honeycombing c/w UIP	No	Lung transplant age 13 years; died from oral cancer, age 19 years
231-1^#	UK	3	9.8	53%	Restrictive	3.9	Cy/Flu/TBI	14	Cough, dyspnoea, air hunger	Patchy diffuse ground-glass opacities c/w NSIP pattern	No	Died from pulmonary fibrosis, age 17 years
291-1^¶	PARN	13	19.2	25%	Restrictive			21	Clubbing, ↓S_O₂	Increased reticular markings with architectural distortion in upper lung zones suggestive of NSIP	Yes, portal	Underwent HCT at age 22 years; alive with pulmonary symptoms, age 25 years
6-1	TERC	28	44.6	88%	Restrictive			54	Cough, dyspnoea, ↓S_O₂	Peripheral interstitial and ground-glass opacities with honeycombing in bases bilaterally c/w UIP	No	Alive on supplemental O₂, age 58 years
114-1	TERC	34	56.7	57%	Restrictive			56.7	Dyspnoea on exertion	Progressive polygonal and reticular opacities both lung bases and upper lobes c/w UIP		Alive, has dyspnoea and ↓S_O₂ on exertion, age 59 years
350-1^¶	TERC	44	59.5	61%	Obstructive			59.54	Cough, dyspnoea, ↓S_O₂	Decreased lung volume; both lower lobes with increased interstitial markings in the periphery with areas of honeycombing (UIP and NSIP pattern)	No	Underwent HCT at age 63 years; died from HCT complications
329-1	TERT	65	69	34%	Restrictive			65	Dyspnoea, ↓S_O₂	Extensive areas of honeycombing and peripheral fibrosis more marked in lung bases c/w UIP	No	Died from pulmonary fibrosis, age 69 years

NCI UPN: National Cancer Institute unique patient number; PFT: pulmonary function test; D_LCO: diffusing capacity of the lung for carbon monoxide; HCT: haematopoietic cell transplantation; PD: pulmonary disease; HRCT: high-resolution computed tomography; AVM: arteriovenous malformation; AR: autosomal recessive; UK: unknown; Cy: cyclophosphamide; Flu: fludarabine; TBI: total body irradiation; Bu: busulfan; ATG: antithymocyte globulin; S_O₂: oxygen saturation; UIP: usual interstitial pneumonia; c/w: consistent with; NSIP: nonspecific interstitial pneumonia; HPS: hepatopulmonary syndrome. ^#: underwent HCT prior to PFT evaluation; ^¶: underwent HCT after the diagnosis of AVM and interstitial fibrosis.