Genetic and clinical characteristics of patients with FHL
| Patient . | Sex . | Age . | PRF1 . | UNC13D . | STX11 . | NK function in lytic units* . | Perforin MCF NK cells† . |
|---|---|---|---|---|---|---|---|
| P33 | Female | 2 months | 50delT + Q481P | ND | ND | 0.0 | 0.0 |
| P35 | Male | 7 years | hV50M | ND | ND | 9.2 | 57 |
| P59 | Male | 3 months | h50delT | ND | ND | 0.0 | 0.0 |
| P1002 | Female | 9 years | wt | wt | wt | 57.4 | 501 |
| P101 | Male | 6 years | wt | wt | wt | 15.3 | 440 |
| P66 | Female | 15 years | wt | wt | wt | 0.1 | 100 |
| P76 | Male | 5 years | wt | wt | wt | 13.3 | 634 |
| P92 | Female | 1 months | wt | 1993(−2) a > c + wt | wt | 1.0 | 552 |
| P98 | Male | 1 months | wt | wt | wt | 0.0 | 781 |
| P94 | Male | 5 years | wt | wt | wt | 0.0 | 181 |
| P96 | Male | 16 months | wt | wt | wt | 7.4 | 404 |
| Patient . | Sex . | Age . | PRF1 . | UNC13D . | STX11 . | NK function in lytic units* . | Perforin MCF NK cells† . |
|---|---|---|---|---|---|---|---|
| P33 | Female | 2 months | 50delT + Q481P | ND | ND | 0.0 | 0.0 |
| P35 | Male | 7 years | hV50M | ND | ND | 9.2 | 57 |
| P59 | Male | 3 months | h50delT | ND | ND | 0.0 | 0.0 |
| P1002 | Female | 9 years | wt | wt | wt | 57.4 | 501 |
| P101 | Male | 6 years | wt | wt | wt | 15.3 | 440 |
| P66 | Female | 15 years | wt | wt | wt | 0.1 | 100 |
| P76 | Male | 5 years | wt | wt | wt | 13.3 | 634 |
| P92 | Female | 1 months | wt | 1993(−2) a > c + wt | wt | 1.0 | 552 |
| P98 | Male | 1 months | wt | wt | wt | 0.0 | 781 |
| P94 | Male | 5 years | wt | wt | wt | 0.0 | 181 |
| P96 | Male | 16 months | wt | wt | wt | 7.4 | 404 |