Table 1:

Patients’ characteristics.

Patient	Age (years) Sex	Presence of Clinical Triad	Telomere Length	Co-morbid Conditions	PFT
1	24 Male	Skin, Nail, Oral	VL	Epiphora, early gray hair, bipolar	Moderately decreased DLCO
2	29 Female	Skin, Nail, Oral	VL	Epiphora, early gray hair	Normal
3	5 Female	Nail, Oral	VL	None	N/A
4	2 Male	None	VL	HH syndrome, delayed development, ataxia, microcephaly, cerebellar hypoplasia, IUGR, retinal hemorrhages	N/A
5	18 Female	Skin, Nail, Oral	VL	None	Mild reversible obstruction
6	25 Male	None	VL	Mild hypogonadism, short stature and learning disabilities	Mildly decreased DLCO

PFT, pulmonary function tests; DLCO, carbon monoxide diffusing capacity; N/A, not applicable due to young age; VL, very low (<1%) in granulocytes, lymphocytes, naïve T cells, memory T cells, and B cells (granulocytes too low to test in patient 4); HH, Hoyerdaal-Hreidarsson; IUGR, intrauterine growth restriction