Patient-related characteristics and outcomes for 83 patients with SCID
| . | N . | Deaths . | 5-Year OS, % (95% CI) . | P . | Neurologic events . | 5-Year cumulative incidence of neurologic events, % (95% CI) . | P . | Neurologic event–free survivors . | 5-Year NEFS, % (95% CI) . | P . |
|---|---|---|---|---|---|---|---|---|---|---|
| Overall | 83 | 21 | 78 (69-87) | 8 | 11 (4-18) | 54 | 68 (58-78) | |||
| Sex | .06 | |||||||||
| Male | 49 | 16 | 69 (56-82) | 6 | 15 (7-31) | .28 | 27 | 57 (43-71) | .03 | |
| Female | 34 | 5 | 91 (82-100) | 2 | 7 (2-24) | 27 | 85 (73-97) | |||
| Trigger for diagnosis | ||||||||||
| Infection/autoimmunity | 49 | 18 | 67 (54-80) | .02 | 8 | 20 (7-23) | .03 | 23 | 51 (37-65) | <.001 |
| FH | 13 | 1 | 100 (73-100) | 0 | 0 (0-27) | 12 | 100 (72-100) | |||
| NBS | 21 | 2 | 90 (77-100) | 0 | 0 (0-18) | 19 | 90 (77-100) | |||
| Pre-HCT infection | .004 | |||||||||
| No | 34 | 3 | 97 (91-100) | 0 | 0 (0-12) | .006 | 31 | 97 (91-100) | <.001 | |
| Yes | 49 | 18 | 63 (49-76) | 8 | 21 (8-24) | 23 | 49 (32-60) | |||
| Age at HCT | .002 | |||||||||
| <3.5 mo | 39 | 4 | 92 (84-100) | 1 | 3 (1-7) | .02 | 34 | 90 (80-99) | <.001 | |
| >3.5 mo | 44 | 17 | 66 (52-70) | 7 | 20 (7-34) | 20 | 50 (35-65) | |||
| Genotype | .007 | |||||||||
| IL2RG/JAK3 | 20 | 2 | 90 (85-100) | 3 | 16 (6-46) | .73 | 15 | 75 (56-94) | .03 | |
| RAG1/2 | 13 | 2 | 85 (65-100) | 1 | 9 (1-59) | 10 | 77 (54-99) | |||
| DCLRE1C | 23 | 7 | 83 (67-98) | 1 | 4 (1-30) | 15 | 78 (61-95) | |||
| IL7R/CD3D | 12 | 1 | 92 (76-100) | 2 | 17 (5-59) | 9 | 75 (51-99) | |||
| Rare/unknown* | 15 | 9 | 40 (15-65) | 1 | 11 (2-71) | 5 | 33 (10-57) | |||
| SCID classification | .05 | |||||||||
| Typical | 71 | 16 | 82 (72-91) | 8 | 13 (4-21) | .26 | 47 | 70 (59-81) | .36 | |
| Leaky/Omenn | 12 | 5 | 53 (22-85) | 0 | 0 (0-28) | 7 | 53 (22-85) |
| . | N . | Deaths . | 5-Year OS, % (95% CI) . | P . | Neurologic events . | 5-Year cumulative incidence of neurologic events, % (95% CI) . | P . | Neurologic event–free survivors . | 5-Year NEFS, % (95% CI) . | P . |
|---|---|---|---|---|---|---|---|---|---|---|
| Overall | 83 | 21 | 78 (69-87) | 8 | 11 (4-18) | 54 | 68 (58-78) | |||
| Sex | .06 | |||||||||
| Male | 49 | 16 | 69 (56-82) | 6 | 15 (7-31) | .28 | 27 | 57 (43-71) | .03 | |
| Female | 34 | 5 | 91 (82-100) | 2 | 7 (2-24) | 27 | 85 (73-97) | |||
| Trigger for diagnosis | ||||||||||
| Infection/autoimmunity | 49 | 18 | 67 (54-80) | .02 | 8 | 20 (7-23) | .03 | 23 | 51 (37-65) | <.001 |
| FH | 13 | 1 | 100 (73-100) | 0 | 0 (0-27) | 12 | 100 (72-100) | |||
| NBS | 21 | 2 | 90 (77-100) | 0 | 0 (0-18) | 19 | 90 (77-100) | |||
| Pre-HCT infection | .004 | |||||||||
| No | 34 | 3 | 97 (91-100) | 0 | 0 (0-12) | .006 | 31 | 97 (91-100) | <.001 | |
| Yes | 49 | 18 | 63 (49-76) | 8 | 21 (8-24) | 23 | 49 (32-60) | |||
| Age at HCT | .002 | |||||||||
| <3.5 mo | 39 | 4 | 92 (84-100) | 1 | 3 (1-7) | .02 | 34 | 90 (80-99) | <.001 | |
| >3.5 mo | 44 | 17 | 66 (52-70) | 7 | 20 (7-34) | 20 | 50 (35-65) | |||
| Genotype | .007 | |||||||||
| IL2RG/JAK3 | 20 | 2 | 90 (85-100) | 3 | 16 (6-46) | .73 | 15 | 75 (56-94) | .03 | |
| RAG1/2 | 13 | 2 | 85 (65-100) | 1 | 9 (1-59) | 10 | 77 (54-99) | |||
| DCLRE1C | 23 | 7 | 83 (67-98) | 1 | 4 (1-30) | 15 | 78 (61-95) | |||
| IL7R/CD3D | 12 | 1 | 92 (76-100) | 2 | 17 (5-59) | 9 | 75 (51-99) | |||
| Rare/unknown* | 15 | 9 | 40 (15-65) | 1 | 11 (2-71) | 5 | 33 (10-57) | |||
| SCID classification | .05 | |||||||||
| Typical | 71 | 16 | 82 (72-91) | 8 | 13 (4-21) | .26 | 47 | 70 (59-81) | .36 | |
| Leaky/Omenn | 12 | 5 | 53 (22-85) | 0 | 0 (0-28) | 7 | 53 (22-85) |
Other genotypes included: LIG4 (n = 1) and RMRP (n=1). Thirteen were unknown.