Patient | PRF1 mutation | PRF1 polymorphism | Age/gender | Ethnicity | NK function (lytic units) | Perforin expressing NK cells | Perforin MCF of NK cells | Granzyme B expressing NK cells | Granzyme B MCF of NK cells |
---|---|---|---|---|---|---|---|---|---|
*Heterozygous; **homozygous. | |||||||||
‡Previously reported by Kogawa et al. | |||||||||
§Parents of a patient with HLH (patient unavailable). | |||||||||
¶A patient with variable NK function; the high and low values of six samplings are shown. | |||||||||
*Patients with N252S transition; **patients with A91V transition. | |||||||||
Novel mutations are in bold type. | |||||||||
MCF, mean channel fluorescence; ND, not done (test not performed). | |||||||||
P22 | 665 A→G (H222R)* | None | 1 month/M | Mixed: White/Asian | <0.01 ↓ | <1% ↓ | — | 89% | 642 |
P21 | 50delT (L17X)** | H300H** | 2 months/M | African-American | <0.01 ↓ | <1% ↓ | — | 98% ↑ | 908 |
P23 | 469 T→G (F157V)* | A274A* | 2 months/F | White | <0.01 ↓ | <1% ↓ | — | ND | ND |
1628insT (frameshift)* | H300H* | ||||||||
P30 | 50delT (L17X)** | H300H** | 2 months/M | African-American | <0.01 ↓ | <1% ↓ | — | 98% ↑ | 4024 ↑ |
P33 | 50delT (L17X)* | H300H** | 2 months/F | Hispanic | <0.01 ↓ | <1% ↓ | — | 95% | 2847 ↑ |
1442 A→C (Q481P)* | |||||||||
P9‡ | 50delT (L17X)** | H300H** | 3 months/F | African-American | <0.01 ↓ | <1% ↓ | — | ND | ND |
P59 | 50delT (L17X)** | H300H** | 3 months/M | African-American | <0.01 ↓ | <1% ↓ | — | 83% | 1140 ↑ |
P28 | 666 C→A (H222Q)* | H300H* | 3 months/M | White | <0.01 ↓ | <1% ↓ | — | 57% ↓ | 964 |
1636delC (frameshift)* | |||||||||
P32 | 50delT (L17X)* | H300H** | 4 months/M | African-American | <0.01 ↓ | <1% ↓ | — | 99% ↑ | 3711 ↑ |
217 T→C (C73R)* | |||||||||
P26 | 50delT (L17X)** | H300H** | 6 months/F | African-American | <0.01 ↓ | <1% ↓ | — | 87% | 3071 ↑ |
P31 | 50delT (L17X)** | H300H** | 6 months/F | African-American | <0.01 ↓ | <1% ↓ | — | 81% | 817 |
P50‡ | 445 G→A (G149S)** | V145V** | 6 months/M | Hispanic | <0.01 ↓ | <1% ↓ | — | 87% | 870 |
A154A** | |||||||||
N252S** | |||||||||
H300H** | |||||||||
P11* | 50delT (L17X)** | H300H** | 8 months/M | African-American | <0.01 ↓ | <1% ↓ | — | ND | ND |
P34 | 50delT (L17X)* | H300H** | 8 months/F | African-American | <0.01 ↓ | <1% ↓ | — | 79% | 964 |
134 G→A (G45E)* | |||||||||
P57 | 673 C→T (R225W)** | None | 2 years/M | Filipino | <0.01 ↓ | 91% | 75 ↓ | 98% ↑ | 3514 ↑ |
P25* | 445 G→A (G149S)* | V145V* | 2 years/M | Portuguese | <0.01 ↓ | ND | ND | ND | ND |
895 C→T (R299C)* | A154A* | ||||||||
N252S* | |||||||||
H300H* | |||||||||
P10‡** | 133 G→A (G45R)* | A91V* | 3 years/F | Hispanic | 0.1 ↓ | 61% ↓ | 50 ↓ | ND | ND |
160 C→T (R54C)* | H300H* | ||||||||
P24* | 445 G→A (G149S)* | V145V* | 4 years/F | Hispanic | <0.01 ↓ | 18% ↓ | 51 ↓ | 95% | 1521 ↑ |
A154A* | |||||||||
N252S* | |||||||||
1081 A→T (R361W)* | H300H** | ||||||||
P29 | 673 C→T (R225W)** | None | 5 years/F | White | 0.1 ↓ | 53% ↓ | 29 ↓ | 95% | 707 |
P12 | 449 C→A (S150X)* | A274A* | 5 years/F | White | <0.01 ↓ | ND | ND | ND | ND |
673 C→T (R225W)* | H300H** | ||||||||
P35 | 148 G→A (V50M)** | H300H** | 7 years/M | Russian | 9.2/0.01¶ | 9% ↓ | 44 ↓ | 96% ↑ | 803 |
P58** | 3 G→A (M1I)* | A91V* | 8 years/M | White | 0.01 ↓ | <1% ↓ | – | 94% | 2861 ↑ |
208 G→T (D70Y)* | H300H* | ||||||||
P1‡ | 116 C→A (P39H)* | H300H* | 10 years/F | White | 0.8 ↓ | 1% ↓ | 28 ↓ | ND | ND |
445 G→A (G149S)* | |||||||||
P27§** | 3 G→A (M1I)* | A91V* H300H* | — | White | ND | ND | ND | ND | ND |
938 A→T (D313V)* | A274A* H300H** | ||||||||
P56§ | 50delT (L17X)** | H300H* | — | African-American | ND | ND | ND | ND | ND |
H300H** | |||||||||
Median values | 6 months | — | 0.01 | <1% | — | 95% | 1052 | ||
Normal range | — | — | >3.2 | <1 year: 94 (3) | 373 (129) | 86 (9) | 786 (286) | ||
1–15 years: 86 (5) |