Fig. 2.

TL has age-dependent diagnostic thresholds. (A and B) Lymphocyte TL measurements from 100 telomerase and telomere maintenance gene mutation carriers relative to the nomogram with the age-adjusted deviation from the median (ΔT) shown by two-decade intervals. In B, 1st and 10th percentile thresholds are annotated to the right. (C) Data from A separated by mutation carriers who had symptoms, defined as primary immunodeficiency, bone marrow failure, liver disease, or pulmonary fibrosis-emphysema, and those who had no symptoms. (D) The proportion of symptomatic patients increases with age, as indicated by the red circles and quantified in the proportions listed below each age group. (E) TL in lymphocytes annotated by mutant gene. (F) Shorter TL in DKC1 mutation carriers (males) relative to TERT and TR. Graphs in B, D, and E indicate means ± SEM, Mann–Whitney U test.