Table 2.
Genetic findings and aspects of clinical presentation
| Genetic category | N | Age at diagnosis, median (range), y | P value, median age | Overall survival estimate,* % | Associated trigger, % | Maximum level of therapy, % |
|---|---|---|---|---|---|---|
| fHLH | 19 | 0.51 (0.04-16.07) | .02 | 54 | None: 57.9† | Observation/none: 0.0 |
| Autoimmune: 0.0† | Biologics/steroids: 0.0 | |||||
| Infection: 36.8 | Immunochemotherapy: 26.3‡ | |||||
| Malignancy: 5.3 | HSCT: 73.7† | |||||
| PIDD | 11 | 8.73 (0.14-17.96) | .71 | 88 | None: 36.4 | Observation/none: 0.0 |
| Autoimmune: 9.1 | Biologics/steroids: 0.0 | |||||
| Infection: 45.5 | Immunochemotherapy: 81.8† | |||||
| Malignancy: 9.1 | HSCT: 0.0 | |||||
| Unknown: 18.2 | ||||||
| DIAP | 8 | 10.96 (1.36-18.51) | .06 | 67 | None: 25.0 | Observation/none: 0.0 |
| Autoimmune: 62.5 | Biologics/steroids: 37.5 | |||||
| Infection: 0.0† | Immunochemotherapy: 50.0 | |||||
| Malignancy: 12.5 | HSCT: 12.5 | |||||
| Other candidate defects | 5 | 9.34 (2.79-17.03) | .36 | 67 | None: 20.0 | Observation/none: 20.0 |
| Autoimmune: 0.0 | Biologics/steroids: 0.0 | |||||
| Infection: 40.0 | Immunochemotherapy: 40.0 | |||||
| Malignancy: 40.0 | HSCT: 20.0 | |||||
| Unknown: 20.0 | ||||||
| No genetic explanation | 76 | 6.18 (0.05-17.53) | Reference | 47 | None: 17.1 | Observation/none: 10.5 |
| Autoimmune: 32.9 | Biologics/steroids: 18.4 | |||||
| Infection: 38.2 | Immunochemotherapy: 43.4 | |||||
| Malignancy: 11.8 | HSCT: 27.6 |
*
By Kaplan-Meier analysis.
†
Significantly different compared with no genetic explanation group (P < .05).
‡
N = 5, including 3 who died before HSCT and 2 with HSCT anticipated.