Characteristics of patients with novel telomerase and shelterin mutations.

1AA: aplastic anaemia, CAA: constitutional AA, NSAA: non-severe AA, MDS: myelodysplastic syndrome, HH: Hoyeraal Hreidarrson syndrome.2NK: natural killer cells; VSD: ventricular septal defect; IPF: idiopathic pulmonary fibrosis; LFT: liver function test.3FH: family history.4Relatives are listed where they were available and tested positive for the mutation. As = asymptomatic, S = symptomatic, M = mother, F = father, So = son, Si = sister, B = brother, Gm = grandmother.5Location: domain of TERC: Ps = pseudoknot.6TRAP: telomere repeat amplification protocol, % wild type.7Δtel: age-adjusted telomere length measurement.8also published in another family elsewhere [15], [37].