Patient and transplant characteristics
| . | Overall . | Age <18 y . | Age ≥18 y . |
|---|---|---|---|
| n (%) . | n (%) . | n (%) . | |
| Study participants | 712 (100) | 635 (89) | 77 (11) |
| Median age (y), range (min, max) | 7.08 (0.190-48.6) | 5.73 (0.190-18.0) | 21.9 (18.0-48.6) |
| Sex | |||
| Male | 617 (86.7) | 551 (86.8) | 66 (85.7) |
| Female | 93 (13.1) | 82 (12.9) | 11 (14.3) |
| Missing data | 2 (0.3) | 2 (0.3) | 0 (0) |
| Pattern of inheritance | |||
| Autosomal recessive CGD | 104 (14.6) | 90 (14.2) | 14 (18.2) |
| X-linked CGD | 309 (43.4) | 278 (43.8) | 31 (40.3) |
| Missing data | 299 (42.0) | 267 (42.0) | 32 (41.6) |
| Comorbidities before transplantation | |||
| Infections | |||
| No | 160 (22.5) | 132 (20.8) | 28 (36.4) |
| Yes | 339 (47.6) | 309 (48.7) | 30 (39.0) |
| Not evaluated | 0 (0) | 0 (0) | 0 (0) |
| Missing data | 213 (29.9) | 194 (30.6) | 19 (24.7) |
| Liver involvement | |||
| Absent | 411 (57.7) | 374 (58.9) | 37 (48.1) |
| Present | 41 (5.8) | 37 (5.8) | 4 (5.2) |
| Missing data | 260 (36.5) | 224 (35.3) | 36 (46.8) |
| Colitis | |||
| Absent | 346 (48.6) | 320 (50.4) | 26 (33.8) |
| Present | 108 (15.2) | 91 (14.3) | 17 (22.1) |
| Missing data | 258 (36.2) | 224 (35.3) | 34 (44.2) |
| Malnutrition | |||
| Absent | 338 (47.5) | 306 (48.2) | 32 (41.6) |
| Present | 112 (15.7) | 103 (16.2) | 9 (11.7) |
| Missing data | 262 (36.8) | 226 (35.6) | 36 (46.8) |
| Renal involvement | |||
| Absent | 427 (60.0) | 391 (61.6) | 36 (46.8) |
| Present | 25 (3.5) | 20 (3.1) | 5 (6.5) |
| Missing data | 260 (36.5) | 224 (35.3) | 36 (46.8) |
| Conditioning regimen | |||
| Busulfan, fludarabine | 323 (45.4) | 270 (42.5) | 53 (68.8) |
| Busulfan, cyclophosphamide | 113 (15.9) | 112 (17.6) | 1 (1.3) |
| Treosulfan, fludarabine | 89 (12.5) | 84 (13.2) | 5 (6.5) |
| Treosulfan, fludarabine, thiotepa | 58 (8.1) | 54 (8.5) | 4 (5.2) |
| Other combinations | 111 (15.6) | 98 (15.5) | 13 (16.9) |
| Missing data | 18 (2.5) | 17 (2.7) | 1 (1.3) |
| In vivo T-cell depletion | |||
| ATG | 264 (37.1) | 230 (36.2) | 34 (44.2) |
| Alemtuzumab | 265 (37.2) | 240 (37.8) | 25 (32.5) |
| None | 178 (25) | 161 (25.4) | 17 (22.1) |
| Other | 5 (0.7) | 4 (0.6) | 1 (1.3) |
| In vitro T-cell depletion | |||
| Absent (no mismatch) | 469 (65.9) | 414 (65) | 55 (71.4) |
| Absent (1-Ag mismatch) | 85 (12) | 69 (11) | 16 (20.7) |
| Absent (>1-Ag mismatch) | 10 (1.4) | 9 (1.5) | 1 (1.4) |
| Present (no mismatch) | 35 (5) | 33 (5) | 2 (2.5) |
| Present (1-Ag mismatch) | 12 (1.6) | 12 (2) | 0 (0) |
| Present (>1-Ag mismatch) | 16 (2.2) | 16 (2.5) | 0 (0) |
| Missing data | 85 (11.9) | 82 (13) | 3 (4) |
| Donor type | |||
| MFD | 257 (36.1) | 233 (36.7) | 24 (31.2) |
| MUD* | 290 (40.7) | 258 (40.6) | 32 (41.6) |
| MMFD | 36 (5.1) | 35 (5.5) | 1 (1.3) |
| MMUD* | 107 (15.0) | 90 (14.2) | 17 (22.1) |
| Other/missing data | 22 (3.1) | 19 (3) | 3 (3.9) |
| HLA matching | |||
| No mismatch (PB, BM10/10 or CB 6/6) | 547 (76.8) | 491 (77.3) | 56 (72.7) |
| 1 Ag mismatch (PB,BM 9/10 or CB 5/6) | 105 (14.7) | 88 (13.9) | 17 (22.1) |
| >1 Ag mismatch (PB,BM <9/10 or CB <5/6) | 29 (4.1) | 28 (4.4) | 1 (1.3) |
| Missing data | 31 (4.4) | 28 (4.4) | 3 (3.9) |
| Stem cell source | |||
| Bone marrow | 468 (65.7) | 427 (67.2) | 41 (53.2) |
| Peripheral blood | 200 (28.1) | 166 (26.1) | 34 (44.2) |
| Umbilical cord blood | 30 (4.2) | 29 (4.6) | 1 (1.3) |
| Other/missing data | 14 (0.5) | 13 (2.1) | 1 (1.3) |
| Year of transplantation | |||
| 1993-2005 | 92 (13) | 81 (12.7) | 11 (14) |
| 2006-2018 | 620 (87) | 554 (87.3) | 66 (86) |
| . | Overall . | Age <18 y . | Age ≥18 y . |
|---|---|---|---|
| n (%) . | n (%) . | n (%) . | |
| Study participants | 712 (100) | 635 (89) | 77 (11) |
| Median age (y), range (min, max) | 7.08 (0.190-48.6) | 5.73 (0.190-18.0) | 21.9 (18.0-48.6) |
| Sex | |||
| Male | 617 (86.7) | 551 (86.8) | 66 (85.7) |
| Female | 93 (13.1) | 82 (12.9) | 11 (14.3) |
| Missing data | 2 (0.3) | 2 (0.3) | 0 (0) |
| Pattern of inheritance | |||
| Autosomal recessive CGD | 104 (14.6) | 90 (14.2) | 14 (18.2) |
| X-linked CGD | 309 (43.4) | 278 (43.8) | 31 (40.3) |
| Missing data | 299 (42.0) | 267 (42.0) | 32 (41.6) |
| Comorbidities before transplantation | |||
| Infections | |||
| No | 160 (22.5) | 132 (20.8) | 28 (36.4) |
| Yes | 339 (47.6) | 309 (48.7) | 30 (39.0) |
| Not evaluated | 0 (0) | 0 (0) | 0 (0) |
| Missing data | 213 (29.9) | 194 (30.6) | 19 (24.7) |
| Liver involvement | |||
| Absent | 411 (57.7) | 374 (58.9) | 37 (48.1) |
| Present | 41 (5.8) | 37 (5.8) | 4 (5.2) |
| Missing data | 260 (36.5) | 224 (35.3) | 36 (46.8) |
| Colitis | |||
| Absent | 346 (48.6) | 320 (50.4) | 26 (33.8) |
| Present | 108 (15.2) | 91 (14.3) | 17 (22.1) |
| Missing data | 258 (36.2) | 224 (35.3) | 34 (44.2) |
| Malnutrition | |||
| Absent | 338 (47.5) | 306 (48.2) | 32 (41.6) |
| Present | 112 (15.7) | 103 (16.2) | 9 (11.7) |
| Missing data | 262 (36.8) | 226 (35.6) | 36 (46.8) |
| Renal involvement | |||
| Absent | 427 (60.0) | 391 (61.6) | 36 (46.8) |
| Present | 25 (3.5) | 20 (3.1) | 5 (6.5) |
| Missing data | 260 (36.5) | 224 (35.3) | 36 (46.8) |
| Conditioning regimen | |||
| Busulfan, fludarabine | 323 (45.4) | 270 (42.5) | 53 (68.8) |
| Busulfan, cyclophosphamide | 113 (15.9) | 112 (17.6) | 1 (1.3) |
| Treosulfan, fludarabine | 89 (12.5) | 84 (13.2) | 5 (6.5) |
| Treosulfan, fludarabine, thiotepa | 58 (8.1) | 54 (8.5) | 4 (5.2) |
| Other combinations | 111 (15.6) | 98 (15.5) | 13 (16.9) |
| Missing data | 18 (2.5) | 17 (2.7) | 1 (1.3) |
| In vivo T-cell depletion | |||
| ATG | 264 (37.1) | 230 (36.2) | 34 (44.2) |
| Alemtuzumab | 265 (37.2) | 240 (37.8) | 25 (32.5) |
| None | 178 (25) | 161 (25.4) | 17 (22.1) |
| Other | 5 (0.7) | 4 (0.6) | 1 (1.3) |
| In vitro T-cell depletion | |||
| Absent (no mismatch) | 469 (65.9) | 414 (65) | 55 (71.4) |
| Absent (1-Ag mismatch) | 85 (12) | 69 (11) | 16 (20.7) |
| Absent (>1-Ag mismatch) | 10 (1.4) | 9 (1.5) | 1 (1.4) |
| Present (no mismatch) | 35 (5) | 33 (5) | 2 (2.5) |
| Present (1-Ag mismatch) | 12 (1.6) | 12 (2) | 0 (0) |
| Present (>1-Ag mismatch) | 16 (2.2) | 16 (2.5) | 0 (0) |
| Missing data | 85 (11.9) | 82 (13) | 3 (4) |
| Donor type | |||
| MFD | 257 (36.1) | 233 (36.7) | 24 (31.2) |
| MUD* | 290 (40.7) | 258 (40.6) | 32 (41.6) |
| MMFD | 36 (5.1) | 35 (5.5) | 1 (1.3) |
| MMUD* | 107 (15.0) | 90 (14.2) | 17 (22.1) |
| Other/missing data | 22 (3.1) | 19 (3) | 3 (3.9) |
| HLA matching | |||
| No mismatch (PB, BM10/10 or CB 6/6) | 547 (76.8) | 491 (77.3) | 56 (72.7) |
| 1 Ag mismatch (PB,BM 9/10 or CB 5/6) | 105 (14.7) | 88 (13.9) | 17 (22.1) |
| >1 Ag mismatch (PB,BM <9/10 or CB <5/6) | 29 (4.1) | 28 (4.4) | 1 (1.3) |
| Missing data | 31 (4.4) | 28 (4.4) | 3 (3.9) |
| Stem cell source | |||
| Bone marrow | 468 (65.7) | 427 (67.2) | 41 (53.2) |
| Peripheral blood | 200 (28.1) | 166 (26.1) | 34 (44.2) |
| Umbilical cord blood | 30 (4.2) | 29 (4.6) | 1 (1.3) |
| Other/missing data | 14 (0.5) | 13 (2.1) | 1 (1.3) |
| Year of transplantation | |||
| 1993-2005 | 92 (13) | 81 (12.7) | 11 (14) |
| 2006-2018 | 620 (87) | 554 (87.3) | 66 (86) |
1-Ag MM, 1-antigen-mismatched donor; BM, bone marrow; CB, cord blood; MMFD, mismatched family donor; MMUD, mismatched unrelated donor; PB, peripheral blood.
Full information on HLA typing in MUD/MMUD transplants was available in 354 of 397 cases (high resolution, 10 alleles in 252 of 354; low resolution, <10 alleles in 102 of 354).