Patients and HSCT characteristics
| Characteristics . | No. of patients (%) . |
|---|---|
| Molecular diagnosis | |
| IL2RG (γc) | 22 (24.5) |
| RAG-1/2 | 20 (22) |
| JAK3 | 16 (18) |
| DCLRE1C (Artemis) | 12 (13) |
| IL7RA | 6 (6.5) |
| Unknown | 6 (7) |
| Reticular dysgenesis | 4 (4.5) |
| ADA | 3 (3.5) |
| CD3E | 1 (1) |
| Median age at diagnosis: 4 mo | |
| ≤ 3 mo | 35 (39) |
| > 3 mo | 55 (61) |
| Sex | |
| Male | 55 (61) |
| Female | 35 (39) |
| Symptoms at diagnosis | |
| None | 16 (18) |
| Infections | 60 (67) |
| Failure to thrive | 40 (44) |
| Omenn syndrome | 8 (9) |
| Maternofetal engraftment | 12 (13) |
| Age at HSCT | |
| ≤ 3.5 mo | 23 (25) |
| > 3.5 mo | 67 (75) |
| Donor origin | |
| Matched sibling (MSD) | 22 (24.5) |
| Pheno-related (PRD) | 15 (16.5) |
| Unrelated (URD) | 2 (2) |
| Mismatched-related (MMRD) | 51 (57) |
| No. of HSCTs/patient* | |
| One | 80 (89) |
| Two | 7 (8) |
| Three | 3 (3) |
| Conditioning regimen† | |
| None | 46 (51) |
| Immunosuppression only | 5 (5.5) |
| Bu 8/Cy 200 mg/kg | 22 (24.5) |
| Bu 16/Cy 200 mg/kg | 17 (19) |
| GVHD prophylaxis | |
| T depletion | 52 (58) |
| E-Rosetting | 25 |
| In vitro monoclonal anti–T-cell antibodies | 8 |
| CD34+ selection | 19 |
| Cyclosporin A | 32 (35) |
| Acute GVHD | |
| Grade ≥ 2 | 31 (34) |
| Grade 2 | 18 |
| Grade 3 | 12 |
| Grade 4 | 1 |
| Chronic GVHD, < 2 y | 24 (27) |
| Severe events after HSCT, < 2 y | |
| Persistent diarrhea, > 1 y | |
| With GVHD | 20 (22) |
| Without GVHD | 9 (10) |
| Autoimmunity | 6 (7) |
| Characteristics . | No. of patients (%) . |
|---|---|
| Molecular diagnosis | |
| IL2RG (γc) | 22 (24.5) |
| RAG-1/2 | 20 (22) |
| JAK3 | 16 (18) |
| DCLRE1C (Artemis) | 12 (13) |
| IL7RA | 6 (6.5) |
| Unknown | 6 (7) |
| Reticular dysgenesis | 4 (4.5) |
| ADA | 3 (3.5) |
| CD3E | 1 (1) |
| Median age at diagnosis: 4 mo | |
| ≤ 3 mo | 35 (39) |
| > 3 mo | 55 (61) |
| Sex | |
| Male | 55 (61) |
| Female | 35 (39) |
| Symptoms at diagnosis | |
| None | 16 (18) |
| Infections | 60 (67) |
| Failure to thrive | 40 (44) |
| Omenn syndrome | 8 (9) |
| Maternofetal engraftment | 12 (13) |
| Age at HSCT | |
| ≤ 3.5 mo | 23 (25) |
| > 3.5 mo | 67 (75) |
| Donor origin | |
| Matched sibling (MSD) | 22 (24.5) |
| Pheno-related (PRD) | 15 (16.5) |
| Unrelated (URD) | 2 (2) |
| Mismatched-related (MMRD) | 51 (57) |
| No. of HSCTs/patient* | |
| One | 80 (89) |
| Two | 7 (8) |
| Three | 3 (3) |
| Conditioning regimen† | |
| None | 46 (51) |
| Immunosuppression only | 5 (5.5) |
| Bu 8/Cy 200 mg/kg | 22 (24.5) |
| Bu 16/Cy 200 mg/kg | 17 (19) |
| GVHD prophylaxis | |
| T depletion | 52 (58) |
| E-Rosetting | 25 |
| In vitro monoclonal anti–T-cell antibodies | 8 |
| CD34+ selection | 19 |
| Cyclosporin A | 32 (35) |
| Acute GVHD | |
| Grade ≥ 2 | 31 (34) |
| Grade 2 | 18 |
| Grade 3 | 12 |
| Grade 4 | 1 |
| Chronic GVHD, < 2 y | 24 (27) |
| Severe events after HSCT, < 2 y | |
| Persistent diarrhea, > 1 y | |
| With GVHD | 20 (22) |
| Without GVHD | 9 (10) |
| Autoimmunity | 6 (7) |
IL2RG indicates interleukin-2 receptor γ; γc, common γ-chain deficiency; JAK3, Janus kinase-3; RAG-1/2, recombination activating gene −1/−2; DCLRE1C, DNA cross-link repair protein 1C; IL7RA, interleukin-7 receptor α; ADA, adenosine deaminase; CD3E, CD3 ϵ ; Bu, busulfan; and Cy, cyclosporine.
Patients who presented engraftment failure (defined as absence of donor T lymphocytes 6 months after HSCT) received at least 2 HSCTs. In these recipients data are analyzed from the last HSCT.
Conditioning regimen follows the European Society for Immunodeficiency/European Bone Marrow Transplantation guidelines for HSCT in SCID.