TABLE 1

Clinical, laboratory and management details of dyskeratosis congenita (DC) and pulmonary arteriovenous malformations (PAVMs) in study participants

Patient	At DC/TBD diagnosis			Telomere length	Gene, mutation	Aplastic anaemia treatment	HCT indication	Age at HCT years	HCT preparation, GVHD prophylaxis	At PAVM diagnosis						Age at last follow-up years
Patient	Age years	Features of DC triad	Aplastic anaemia	Telomere length	Gene, mutation	Aplastic anaemia treatment	HCT indication	Age at HCT years	HCT preparation, GVHD prophylaxis	Age years	Presentation	D_LCO % pred	Co-existent pulmonary fibrosis	Positive TTCE	Evidence of liver disease	Age at last follow-up years
1	13	L	Mild	VL	TERT, c.2266C>T p. R756C	Oxymetholone, danazol	N/A	N/A	N/A	15	Cyanosis, hypoxia, clubbing	16	Y	Y	N	25
2	27	None	Moderate	VL^#	RTEL1, c.2227G>A p.D734N + c.2684C>T p.P895L	Danazol	N/A	N/A	N/A	32	None	52	N	Y	N	32
3	21	None	Moderate	VL^#	TERT, c.994G>A p.1062A>T+ c.844T>C p. S795P	Danazol	N/A	N/A	N/A	27	No symptoms, clubbing	53	N	Y	Hepatic fibrosis, splenomegaly, portal HTN	27
4 NCI 291-1	18	S, DN	Moderate	VL	Compound het. PARN c.19A>C p.N7H; gene deletion	HCT	Severe thrombocytopaenia^¶	21	Flu/alem, CSA/MMF	21	Dyspnoea on exertion, clubbing	28	Y	Y	N	24
5 NCI 216-1	8	DN, L	Severe	VL	Unknown	HCT	Aplastic anaemia	9	Flu/bu/CPM/ATG, tacro/T-cell depletion	14	Dyspnoea on exertion	50	Y	Y	N	17
6 NCI 440-1	3.5	S, DN	Severe	VL	DKC1, c.1223C>T p.T408I	ATG/CSA, androgen, G-CSF, darbepoetin, HCT	Aplastic anaemia	7	Flu/CPM/ATG, CSA/MMF	12	Dyspnoea, clubbing	48	N	N/A	N	14
7	17	S, DN, L	None	N/A	TINF2	HCT	MDS	5	TBI, CSA/MTX	13	Hypoxia, dyspnoea on exertion, clubbing	18	N	Y	N	d.19
8 NCI 297-2	16	S, DN, L	Severe	VL	RTEL1, c.3361delG p.A1121LfsX6, c.1338+3 A>G IVS15+3 A>G	HCT	Aplastic anaemia	19	Flu/CPM/alem/TBI, tacro/MMF	22	Dyspnoea	56	Y	Y	Mild hepatic fibrosis, portal HTN	22
9 NCI 349-1	5.5	S, DN, L	Severe	VL	TINF2, c.845G>A, p.R282H	HCT	Aplastic anaemia	5.7	Flu/CPM/alem/TBI, CSA/MMF	12	Dyspnoea, cough	N/A	Y	N/A	N	d. 13
10	N/A	N/A	N/A	N/A	TINF2, c.845G>A, p.R282H	HCT	Aplastic anaemia	2.9	Flu/alem/CPM/anti CD-45, CSA/MMF	7	Hypoxia	N/A	N	Y	N	10
11	4	S, DN, L	Moderate	VL	TINF2, c.805C>T, p.Q269X	HCT	Aplastic anaemia	4.7	Flu/alem/anti-CD45, Tacro	10	Progressive dyspnoea	N/A	Y	Y	Mild hepatic fibrosis, splenomegaly, portal HTN	11
12 NCI 145-1	9	S, DN	Severe	VL	TINF2, c.844C>A p.R282S	HCT	Aplastic anaemia	10.8	Flu/bu/CPM/ATG, Tacro/T-cell depletion	15	Dyspnoea on exertion	37	N	N	Hepatic fibrosis, s/p splenectomy	d. 16
13 NCI 438-1	1	DN	Severe	VL	TINF2, c.844C>A p.R282S	HCT	Aplastic anaemia	1.5	Flu/CPM/ATG, CSA	3	Chronic hypoxia	N/A	N	Y	N	d. 4

TBD: telomere biology disorder; HCT: haematopoietic stem cell transplantation; GVHD: graft versus host disease; D_LCO: diffusing capacity of the lung for carbon monoxide; TTCE: transthoracic contrast echocardiogram; L: oral leukoplakia; VL: “very low” telomere length, <1st percentile for age in all leukocyte subsets measured using flow cytometry and fluorescence in situ hybridisation (unless indicated by ^#); N/A: not available or not applicable; Y: yes; N: no; HTN: hypertension; S: skin pigmentation; DN: dysplastic nails; flu: fludarabine; alem; alemtuzumab; CSA: ciclosporin; MMF: mycophenolate mofetil; bu: busulfan; CPM: cyclophosphamide; ATG: antithymocyte globulin; tacro: tacrolimus; G-CSF: granulocyte colony-stimulating factor; MDS: myelodysplastic syndrome; TBI: total body irradiation; MTX: methotrexate; d.: died; s/p: status-post. ^#: telomere length <1st percentile for age measured by quantitative PCR; ^¶: HCT for severe thrombocytopaenia that was precluding candidacy for lung transplant.