Patient characteristics
| . | Total . | Stratum A (typical SCID) . | Stratum B (leaky SCID/Omenn/RD) . | P . |
|---|---|---|---|---|
| Subtype | <.001 | |||
| Total (N) | 662 | 581 | 81 | |
| Typical SCID, n (%) | 581 (100) | 0 | ||
| Leaky SCID , n (%) | 0 | 50 (61.7) | ||
| Omenn syndrome, n (%) | 0 | 27 (33.3) | ||
| RD, n (%) | 0 | 4 (5.0) | ||
| Median age at diagnosis (IQR), d | 141.5 (41-215) | 140 (30-209) | 161 (67-256) | .007 |
| Median age at treatment (IQR), d | 191.5 (104-273) | 187 (101-264) | 222 (112-381) | .002 |
| Male sex, n (%) | 471 (71.1) | 425 (73.1) | 46 (56.8) | .002 |
| Median absolute lymphocyte count (IQR), cells/mm3 | 1055 (486-2303) | 1003 (463.5-2064.5) | 2106 (854-5010) | <.001 |
| Median CD3 T-cell count (IQR), cells/mm3 | 30 (6-136) | 23.8 (4-82.2) | 510 (242-1371) | <.001 |
| Gene abnormality, n (%) | <.001 | |||
| ADA | 45 (6.8) | 40 (6.9) | 5 (6.2) | |
| IL2RG/JAK3 | 211 (31.9) | 202 (34.8) | 9 (11.1) | |
| IL2RG | 187 | 178 | 9 | |
| JAK3 | 24 | 24 | 0 | |
| IL7R, CD3 (any), CD45 | 48 (7.3) | 47 (8.1) | 1 (1.2) | |
| IL7R | 40 | 40 | 0 | |
| CD3 | 7 | 6 | 1 | |
| CD45 | 1 | 1 | 0 | |
| DCLRE1C | 28 (4.2) | 27 (4.6) | 1 (1.2) | |
| RAG | 52 (7.9) | 28 (4.8) | 24 (29.6) | |
| Other/unknown/ND | 278 (42) | 237 (40.8) | 41 (50.6) | |
| Unknown/ND | 276 | 236 | 40 | |
| PNP | 1 | 1 | 0 | |
| AK2 | 1 | 0 | 1 | |
| Failure to thrive (weight < 5th percentile), n (%) | 240 (36.3) | 210 (36.1) | 30 (37.0) | .876 |
| Infection at transplant, n (%) | .186 | |||
| Infected/active | 312 (47.1) | 274 (47.2) | 38 (46.9) | |
| Infected/resolved | 177 (26.7) | 155 (26.7) | 22 (27.2) | |
| Infected/unknown | 23 (3.5) | 17 (2.9) | 6 (7.4) | |
| No infection | 150 (22.7) | 135 (23.2) | 15 (18.5) |
| . | Total . | Stratum A (typical SCID) . | Stratum B (leaky SCID/Omenn/RD) . | P . |
|---|---|---|---|---|
| Subtype | <.001 | |||
| Total (N) | 662 | 581 | 81 | |
| Typical SCID, n (%) | 581 (100) | 0 | ||
| Leaky SCID , n (%) | 0 | 50 (61.7) | ||
| Omenn syndrome, n (%) | 0 | 27 (33.3) | ||
| RD, n (%) | 0 | 4 (5.0) | ||
| Median age at diagnosis (IQR), d | 141.5 (41-215) | 140 (30-209) | 161 (67-256) | .007 |
| Median age at treatment (IQR), d | 191.5 (104-273) | 187 (101-264) | 222 (112-381) | .002 |
| Male sex, n (%) | 471 (71.1) | 425 (73.1) | 46 (56.8) | .002 |
| Median absolute lymphocyte count (IQR), cells/mm3 | 1055 (486-2303) | 1003 (463.5-2064.5) | 2106 (854-5010) | <.001 |
| Median CD3 T-cell count (IQR), cells/mm3 | 30 (6-136) | 23.8 (4-82.2) | 510 (242-1371) | <.001 |
| Gene abnormality, n (%) | <.001 | |||
| ADA | 45 (6.8) | 40 (6.9) | 5 (6.2) | |
| IL2RG/JAK3 | 211 (31.9) | 202 (34.8) | 9 (11.1) | |
| IL2RG | 187 | 178 | 9 | |
| JAK3 | 24 | 24 | 0 | |
| IL7R, CD3 (any), CD45 | 48 (7.3) | 47 (8.1) | 1 (1.2) | |
| IL7R | 40 | 40 | 0 | |
| CD3 | 7 | 6 | 1 | |
| CD45 | 1 | 1 | 0 | |
| DCLRE1C | 28 (4.2) | 27 (4.6) | 1 (1.2) | |
| RAG | 52 (7.9) | 28 (4.8) | 24 (29.6) | |
| Other/unknown/ND | 278 (42) | 237 (40.8) | 41 (50.6) | |
| Unknown/ND | 276 | 236 | 40 | |
| PNP | 1 | 1 | 0 | |
| AK2 | 1 | 0 | 1 | |
| Failure to thrive (weight < 5th percentile), n (%) | 240 (36.3) | 210 (36.1) | 30 (37.0) | .876 |
| Infection at transplant, n (%) | .186 | |||
| Infected/active | 312 (47.1) | 274 (47.2) | 38 (46.9) | |
| Infected/resolved | 177 (26.7) | 155 (26.7) | 22 (27.2) | |
| Infected/unknown | 23 (3.5) | 17 (2.9) | 6 (7.4) | |
| No infection | 150 (22.7) | 135 (23.2) | 15 (18.5) |
Definition of typical SCID: T cells < 300 per cubic millimeter and (proliferation to PHA < 10% of lower limit of normal or documented maternal T-cell engraftment); supporting genetic evidence when available. Leaky SCID: reduced number of T cells (≤2 years old: <1000 per cubic millimeter; >2 years old and ≤4 years old: <800 per cubic millimeter; >4 years old: <600 per cubic millimeter) and proliferation to PHA < 30% and no maternal T-cell engraftment. A description table of univariate analysis by stratum was performed for strata A and B. Median (IQR) and frequencies were provided for continuous variables and categorical variables separately. Kruskal-Wallis tests and χ2 tests were applied to evaluate the association for continuous variables and categorical variables, respectively.
IQR, interquartile range; ND, not done; Omenn, Omenn syndrome; RD, reticular dysgenesis.