Characteristics of 207 patients with TBD at first evaluation
| . | All . | Symptomatic patients . | Asymptomatic patients . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n (%) . | Age, median (range), y . | n (%) . | Age, median (range), y . | AD non-TINF2, n (%) . | AD -TINF2, n (%) . | AR/XLR, n (%) . | Unknown, n (%) . | n (%) . | Age, median (range), y . | AD non-TINF2, n (%) . | AR/XLR, n (%) . | |
| All cohort | 207 | 27 (1-76) | 172 (83) | 27 (1-76) | 94 (45) | 24 (12) | 37 (18) | 17 (8) | 35 (17) | 36 (3-62) | 17 (8) | 18 (9) |
| Females | 91 (44) | 32 (1-72) | 70 (34) | 29 (1-72) | 40 (20) | 9 (9) | 12 (6) | 9 (9) | 21 (10) | 36 (3-62) | 11 (5) | 10 (5) |
| Genotype | ||||||||||||
| TERT | 61 (30) | 38 (3-72) | 52 (25) | 37 (3-72) | 49 (23) | — | 3 (1) | — | 9 (4) | 38 (10-62) | 9 (4) | 0 |
| TERC | 39 (19) | 32 (10-60) | 35 (17) | 33 (12-60) | 35 (17) | — | 0 | — | 4 (2) | 17 (11-60) | 4 (2) | 0 |
| RTEL1 | 37 (18) | 24 (1-75) | 22 (10) | 17 (1-75) | 9 (4) | — | 13 (6) | — | 15 (7) | 35 (3-60) | 3 (1) | 12 (6) |
| TINF2 | 24 (12) | 11 (2-71) | 24 (12) | 11 (2-71) | — | 24 (12) | — | — | 0 | — | — | — |
| DKC1 | 13 (6) | 14 (3-47) | 12 (6) | 13 (3-47) | 0 | — | 12 (6) | — | 1 (0.4) | 27 (27-27) | 0 | 1 (0.4) |
| PARN | 8 (4) | 37 (6-53) | 4 (2) | 18 (6-28) | 1 (0.4) | — | 3 (1) | — | 4 (2) | 51 (45-53) | 1 (0.4) | 3 (1) |
| CTC1 | 2 (1) | 25 (16-33) | 2 (1) | 25 (16-33) | 0 | — | 2 (1) | — | 0 | — | 0 | 0 |
| ACD | 3 (1.5) | 4 (3-36) | 1 (0.4) | 3 (3-3) | 0 | — | 1 (0.4) | — | 2 (1) | 20 (4-36) | 0 | 2 (1) |
| WRAP53 | 3 (1.5) | 16 (15-32) | 3 (2) | 16 (15-32) | 0 | — | 3 (1.5) | — | 0 | — | 0 | 0 |
| Unknown | 17 (8) | 29 (2-67) | 17 (10) | 29 (2-68) | — | — | — | 17 (8) | 0 | — | — | — |
| Phenotype at first visit | ||||||||||||
| DC/HH | 59 (28) | 14 (2-48) | 59 (28) | 14 (2-48) | 7 (3) | 18 (9) | 27 (13) | 7 (3) | — | — | — | — |
| Cytopenias | 23 (11) | 27 (8-71) | 23 (11) | 27 (8-71) | 18 (9) | 2 (1) | 1 (0.4) | 2 (1) | — | — | — | — |
| MAA/SAA | 29 (14) | 22 (1-66) | 29 (14) | 22 (1-66) | 21 (10) | 2 (1) | 5 (2) | 1 (0.4) | — | — | — | — |
| BMF/PD_LD | 42 (20) | 41 (3-72) | 42 (24) | 41 (3-72) | 31 (33) | 2 (1) | 3 (1) | 6 (3) | — | — | — | — |
| MDS/AML∗ | 11 (5) | 43 (26-68) | 11 (5) | 43 (26-68) | 9 (9) | — | 1 (0.4) | 1 (0.4) | — | — | — | — |
| PD_LD | 8 (4) | 56 (24-75) | 8 (4) | 56 (24-75) | 8 (4) | — | 0 | — | — | — | — | — |
| Solid Cancer | 14 (7) | 47 (19-60) | 13 (6) | 47 (20-55) | 8 (4) | — | 4 (2) | 1 (0.5) | 1 (0.4) | 60 (60-60) | 0 | 1 (0.4) |
| Karyotype at first visit or during follow-up | ||||||||||||
| Abnormal | 26 (12) | 32 (3-68) | 25 (12) | 32 (3-62) | 14 (7) | 1 (0.4) | 5 (2) | 5 (2) | 1 (0.4) | 4 | 0 | 1 (0.4) |
| Chr1q+ | 9 (4) | 40 (6-53) | 9 (4) | 40 (6-53) | 7 (3) | — | 2 (1) | — | 0 | — | 0 | 0 |
| –7 | 2 (1) | 48 (27-68) | 2 (1) | 48 (27-68) | 1 (0.4) | — | 1 (0.4) | — | 0 | — | 0 | 0 |
| . | All . | Symptomatic patients . | Asymptomatic patients . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n (%) . | Age, median (range), y . | n (%) . | Age, median (range), y . | AD non-TINF2, n (%) . | AD -TINF2, n (%) . | AR/XLR, n (%) . | Unknown, n (%) . | n (%) . | Age, median (range), y . | AD non-TINF2, n (%) . | AR/XLR, n (%) . | |
| All cohort | 207 | 27 (1-76) | 172 (83) | 27 (1-76) | 94 (45) | 24 (12) | 37 (18) | 17 (8) | 35 (17) | 36 (3-62) | 17 (8) | 18 (9) |
| Females | 91 (44) | 32 (1-72) | 70 (34) | 29 (1-72) | 40 (20) | 9 (9) | 12 (6) | 9 (9) | 21 (10) | 36 (3-62) | 11 (5) | 10 (5) |
| Genotype | ||||||||||||
| TERT | 61 (30) | 38 (3-72) | 52 (25) | 37 (3-72) | 49 (23) | — | 3 (1) | — | 9 (4) | 38 (10-62) | 9 (4) | 0 |
| TERC | 39 (19) | 32 (10-60) | 35 (17) | 33 (12-60) | 35 (17) | — | 0 | — | 4 (2) | 17 (11-60) | 4 (2) | 0 |
| RTEL1 | 37 (18) | 24 (1-75) | 22 (10) | 17 (1-75) | 9 (4) | — | 13 (6) | — | 15 (7) | 35 (3-60) | 3 (1) | 12 (6) |
| TINF2 | 24 (12) | 11 (2-71) | 24 (12) | 11 (2-71) | — | 24 (12) | — | — | 0 | — | — | — |
| DKC1 | 13 (6) | 14 (3-47) | 12 (6) | 13 (3-47) | 0 | — | 12 (6) | — | 1 (0.4) | 27 (27-27) | 0 | 1 (0.4) |
| PARN | 8 (4) | 37 (6-53) | 4 (2) | 18 (6-28) | 1 (0.4) | — | 3 (1) | — | 4 (2) | 51 (45-53) | 1 (0.4) | 3 (1) |
| CTC1 | 2 (1) | 25 (16-33) | 2 (1) | 25 (16-33) | 0 | — | 2 (1) | — | 0 | — | 0 | 0 |
| ACD | 3 (1.5) | 4 (3-36) | 1 (0.4) | 3 (3-3) | 0 | — | 1 (0.4) | — | 2 (1) | 20 (4-36) | 0 | 2 (1) |
| WRAP53 | 3 (1.5) | 16 (15-32) | 3 (2) | 16 (15-32) | 0 | — | 3 (1.5) | — | 0 | — | 0 | 0 |
| Unknown | 17 (8) | 29 (2-67) | 17 (10) | 29 (2-68) | — | — | — | 17 (8) | 0 | — | — | — |
| Phenotype at first visit | ||||||||||||
| DC/HH | 59 (28) | 14 (2-48) | 59 (28) | 14 (2-48) | 7 (3) | 18 (9) | 27 (13) | 7 (3) | — | — | — | — |
| Cytopenias | 23 (11) | 27 (8-71) | 23 (11) | 27 (8-71) | 18 (9) | 2 (1) | 1 (0.4) | 2 (1) | — | — | — | — |
| MAA/SAA | 29 (14) | 22 (1-66) | 29 (14) | 22 (1-66) | 21 (10) | 2 (1) | 5 (2) | 1 (0.4) | — | — | — | — |
| BMF/PD_LD | 42 (20) | 41 (3-72) | 42 (24) | 41 (3-72) | 31 (33) | 2 (1) | 3 (1) | 6 (3) | — | — | — | — |
| MDS/AML∗ | 11 (5) | 43 (26-68) | 11 (5) | 43 (26-68) | 9 (9) | — | 1 (0.4) | 1 (0.4) | — | — | — | — |
| PD_LD | 8 (4) | 56 (24-75) | 8 (4) | 56 (24-75) | 8 (4) | — | 0 | — | — | — | — | — |
| Solid Cancer | 14 (7) | 47 (19-60) | 13 (6) | 47 (20-55) | 8 (4) | — | 4 (2) | 1 (0.5) | 1 (0.4) | 60 (60-60) | 0 | 1 (0.4) |
| Karyotype at first visit or during follow-up | ||||||||||||
| Abnormal | 26 (12) | 32 (3-68) | 25 (12) | 32 (3-62) | 14 (7) | 1 (0.4) | 5 (2) | 5 (2) | 1 (0.4) | 4 | 0 | 1 (0.4) |
| Chr1q+ | 9 (4) | 40 (6-53) | 9 (4) | 40 (6-53) | 7 (3) | — | 2 (1) | — | 0 | — | 0 | 0 |
| –7 | 2 (1) | 48 (27-68) | 2 (1) | 48 (27-68) | 1 (0.4) | — | 1 (0.4) | — | 0 | — | 0 | 0 |
Frequencies were calculated based on the total number of patients (n = 207).
AR/XLR, autosomal recessive or X-linked recessive; DC/HH, classical DC or Hoyeraal-Hreidarsson syndrome; SAA/MAA, severe or moderate aplastic anemia; BMF/PD_LD, both bone marrow failure and lung or liver disease; MDS/AML, myelodysplastic syndromes or acute myeloid leukemia; Chr, chromosome; –7, partial deletion of chromosome 7 or monosomy 7.
18 patients developed MDS/AML, including 11 with MDS/AML in the absence of the clinical triad at assessment, 2 with DC/HH and MDS/AML at assessment, and 5 with BMF that evolved during follow-up.