Table 2 Two-generation analysis of mutation genes and NK cell function
Patient | Mother | Father | ||
|---|---|---|---|---|
Mutation genes | STXBP2 | + | + | – |
LYST | + | + | – | |
LRBA | + | + | – | |
AIRE | + | – | + | |
IRF8 | + | – | + | |
NK cell function | Killing activity (normally ≥15.11%) | 6.50% | 4.97% | 16.18% |
Activated CD107a level (normally ≥40%) | 33.24% | 22.60% | 51.20% | |
Resting CD107a level (normally ≥5%) | 14.90% | 3.14% | 15.87% | |