Table 1.
Patient, disease and transplant characteristics
| Characteristics | SCID* N (%) |
non-SCID PIID† N (%) |
IEM‡ N (%) |
|---|---|---|---|
| Number of patients | 201 | 405 | 348 |
| Age at transplant, years | |||
| <1 | 159 (79) | 108 (27) | 81 (23) |
| 1–2 | 36 (18) | 144 (36) | 142 (41) |
| 3–5 | 3 ( 1) | 79 (19) | 54 (15) |
| 6–9 | 3 ( 1) | 34 ( 8) | 38 (11) |
| 10–15 | 1 (<1) | 29 ( 7) | 16 ( 5) |
| >15 | 0 | 11 ( 3) | 17 ( 5) |
| Male | 118 (59) | 296 (73) | 201 (58) |
| Donor type | |||
| HLA-matched sibling | 51 (25) | 137 (34) | 108 (31) |
| Mismatched related | 93 (46) | 50 (12) | 41 (12) |
| Unrelated | 57 (28) | 218 (54) | 199 (57) |
| Graft type | |||
| Bone marrow | 161 (80) | 324 (80) | 260 (75) |
| Peripheral blood progenitor cells | 18 ( 9) | 23 ( 6) | 10 ( 3) |
| Umbilical cord blood | 22 (11) | 58 (14) | 78 (22) |
| Conditioning regimen | |||
| Total body irradiation + cyclophospahmide ± other | 5 ( 2) | 42 (11) | 85 (25) |
| Busulfan + cyclophosphamide ± other | 92 (46) | 333 (82) | 252 (72) |
| Busulfan + other | 10 ( 5) | 7 ( 2) | 4 ( 1) |
| Busulfan alone | 7 ( 3) | 1 (<1) | __ |
| Cyclophosphamide + other | 21 (10) | 10 ( 2) | 2 (<1) |
| Cyclophosphamide alone | 20 (10) | 4 ( 1) | 1 (<1) |
| Fludarabine + other | 5 ( 2) | 7 ( 2) | 4 ( 1) |
| ATG alone | 11 ( 5) | 1 (<1) | __ |
| None | 27 (13) | __ | __ |
| GVHD Prophylaxis | |||
| T-cell depletion | 79 (39) | 61 (15) | 77 (22) |
| Cyclosporine + methotrexate | 56 (28) | 211 (52) | 127 (36) |
| Cyclopsorine ± other agents | 55 (27) | 114 (28) | 128 (36) |
| Tacrolimus ± other agents | 2 (<1) | 8 ( 1) | 5 ( 1) |
| Methotrexate ± other agents | 7 ( 3) | 8 ( 2) | 11 ( 3) |
| Other agents | 2 ( 1) | 3 ( 1) | 0 |
| Year of transplant | |||
| 1980–1989 | 32 (15) | 33 ( 8) | 53 (15) |
| 1990–1000 | 112 (56) | 226 (56) | 172 (49) |
| 2001–2003 | 57 (28) | 146 (36) | 123 (36) |
| History of grade 2–4 acute GVHD | |||
| None | 125 (62) | 239 (59) | 207 (59) |
| Yes | 76 (38) | 166 (41) | 141 (41) |
| Acute GVHD grade | |||
| 0 | 105 (52) | 193 (48) | 153 (44) |
| 1 | 20 (10) | 46 (11) | 54 (15) |
| 2 | 46 (23) | 85 (21) | 75 (22) |
| 3 | 27 (13) | 72 (18) | 54 (15) |
| 4 | 3 ( 1) | 9 ( 2) | 12 ( 4) |
| Chronic GVHD | |||
| None | 163 (81) | 310 (77) | 272 (78) |
| Chronic GVHD resolved by 2 yrs after transplantation | 11 ( 5) | 36 ( 9) | 28 ( 8) |
| Chronic GVHD active for at least 2 yr after transplantation | 23 (11) | 54 (13) | 42 (12) |
| Chronic GVHD resolved by 2 years – not reported | 4 ( 2) | 5 ( 1) | 6 ( 2) |
| Age at last contact, years | |||
| 2–5 | 67 (33) | 79 (20) | 63 (18) |
| 6–9 | 61 (30) | 143 (35) | 101 (29) |
| 10–15 | 57 (28) | 111 (27) | 101 (29) |
| 16–0 | 15 ( 7) | 46 (11) | 48 (14) |
| 21–25 | 1 (<1) | 14 ( 3) | 18 ( 5) |
| >25 | 0 | 13 ( 3) | 17 ( 5) |
| Median follow-up of survivors, months§ | 93 (29–244) | 75 (25–284) | 90 (25–269) |
SCID: ADA deficiency n=9 (4%); T− B− ± NK activity n=76 (38%); T− B+ ± NK activity n=87 (43%); T+ B− ± NK activity n=20 (10%); T+ B+ ± NK activity n=6 (3%); Unknown n=3 (2%)
Non-SCID PIDD: Wiskott Aldrich syndrome n=144 (35%); hemophagocytic lymphohistiocytosis n=91 (25%); Langerhan cell histiocytosis n=12 (3%); Chediak-Higashi syndrome n=21 (4%); chronic granulomatous disease n=17 (4%); Kostmann agranulocytosis n=18 (4%); leukocyte adhesion deficiency n=15 (4%); X-linked lymphoproliferative disease n=12 (3%); other non-SCID PIDD n=75 (18%)
IEM: Osteopetrosis n=59 (17%); Hurler syndrome n=111 (32%); other mucopolysaccharidosis n=48 (12%); adrenoleukodystrophy n=36 (10%); metachromatic leukodystrophy n=33 (9%); globoid cell leukodystrophy n=20 (6%); Gaucher’s disease n=13 (4%); other IEM n=33 (10%)
N=645 patients were followed for at least 5 years, n= 440 were followed for at least 7 years and n=235 were followed for at least 10 years.