Table 1

Profile of patients with primary HLH with PRF1 mutations (n = 25)

PatientPRF1 mutationPRF1 polymorphismAge/genderEthnicityNK function (lytic units)Perforin expressing NK cellsPerforin MCF of NK cellsGranzyme B expressing NK cellsGranzyme 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).
P22665 A→G (H222R)*None1 month/MMixed: White/Asian<0.01 ↓<1% ↓89%642
P2150delT (L17X)**H300H**2 months/MAfrican-American<0.01 ↓<1% ↓98% ↑908
P23469 T→G (F157V)*A274A*2 months/FWhite<0.01 ↓<1% ↓NDND
1628insT (frameshift)*H300H*
P3050delT (L17X)**H300H**2 months/MAfrican-American<0.01 ↓<1% ↓98% ↑4024 ↑
P3350delT (L17X)*H300H**2 months/FHispanic<0.01 ↓<1% ↓95%2847 ↑
1442 A→C (Q481P)*
P9‡50delT (L17X)**H300H**3 months/FAfrican-American<0.01 ↓<1% ↓NDND
P5950delT (L17X)**H300H**3 months/MAfrican-American<0.01 ↓<1% ↓83%1140 ↑
P28666 C→A (H222Q)*H300H*3 months/MWhite<0.01 ↓<1% ↓57% ↓964
1636delC (frameshift)*
P3250delT (L17X)*H300H**4 months/MAfrican-American<0.01 ↓<1% ↓99% ↑3711 ↑
217 T→C (C73R)*
P2650delT (L17X)**H300H**6 months/FAfrican-American<0.01 ↓<1% ↓87%3071 ↑
P3150delT (L17X)**H300H**6 months/FAfrican-American<0.01 ↓<1% ↓81%817
P50‡445 G→A (G149S)**V145V**6 months/MHispanic<0.01 ↓<1% ↓87%870
A154A**
N252S**
H300H**
P11*50delT (L17X)**H300H**8 months/MAfrican-American<0.01 ↓<1% ↓NDND
P3450delT (L17X)*H300H**8 months/FAfrican-American<0.01 ↓<1% ↓79%964
134 G→A (G45E)*
P57673 C→T (R225W)**None2 years/MFilipino<0.01 ↓91%75 ↓98% ↑3514 ↑
P25*445 G→A (G149S)*V145V*2 years/MPortuguese<0.01 ↓NDNDNDND
895 C→T (R299C)*A154A*
N252S*
H300H*
P10‡**133 G→A (G45R)*A91V*3 years/FHispanic0.1 ↓61% ↓50 ↓NDND
160 C→T (R54C)*H300H*
P24*445 G→A (G149S)*V145V*4 years/FHispanic<0.01 ↓18% ↓51 ↓95%1521 ↑
A154A*
N252S*
1081 A→T (R361W)*H300H**
P29673 C→T (R225W)**None5 years/FWhite0.1 ↓53% ↓29 ↓95%707
P12449 C→A (S150X)*A274A*5 years/FWhite<0.01 ↓NDNDNDND
673 C→T (R225W)*H300H**
P35148 G→A (V50M)**H300H**7 years/MRussian9.2/0.01¶9% ↓44 ↓96% ↑803
P58**3 G→A (M1I)*A91V*8 years/MWhite0.01 ↓<1% ↓94%2861 ↑
208 G→T (D70Y)*H300H*
P1‡116 C→A (P39H)*H300H*10 years/FWhite0.8 ↓1% ↓28 ↓NDND
445 G→A (G149S)*
P27§**3 G→A (M1I)*A91V* H300H*WhiteNDNDNDNDND
938 A→T (D313V)*A274A* H300H**
P56§50delT (L17X)**H300H*African-AmericanNDNDNDNDND
H300H**
Median values6 months0.01<1%95%1052
Normal range>3.2<1 year: 94 (3)373 (129)86 (9)786 (286)
1–15 years: 86 (5)