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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.