Table 2

Profile of patients with primary HLH without PRF1 mutations (n = 18) or with normal proportion and/or intensity of perforin, but without available DNA for testing (n = 7)

PatientPRF1 mutationPRF1 polymorphismAge/genderEthnicityNK function (lytic units)Perforin expressing NK cellsPerforin MCF of NK cellsGranzyme B expressing NK cellsGranzyme B MCF of NK cells
*Patients with A91V transition.
*Heterozygous; **homozygous.
‡Previously reported by Kogawa et al.
§Parents of a patient with HLH (patient unavailable).
¶Known consanguinity.
MCF, mean channel fluorescence; NA, DNA not available; ND, not done (test not performed).
P36NoneH300H**7 weeks/MNigerian0.9 ↓84% ↓226 ↓87%674
P37NANA2 months/FWhite<0.01 ↓93%48096% ↑1198 ↑
P6‡NoneA274A*2 months/FWhite<0.01 ↓96%29699% ↑1603 ↑
H300H*
P53NANA2 months/FWhite<0.01 ↓94%974 ↑92%2095 ↑
P38NoneA274A*3 months/MWhite0.2 ↓93%34783%1768 ↑
H300H*
P13NoneA274A*3 months/MWhite<0.01 ↓NDNDNDND
H300H**
P39NANA4 months/FWhite<0.01 ↓90% ↓1394 ↑NDND
P7‡NoneA274A*4 months/FWhite<0.01 ↓83% ↓492NDND
H300H*
P19¶NoneNone4 months/MWhite<0.01 ↓NDNDNDND
P40¶NoneA274A*5 months/MVietnamese<0.01 ↓85% ↓33594%585
H300H*
P41¶NoneH300H**5 months/MWhite<0.01 ↓NDNDNDND
P42NoneA274A*7 months/MWhite<0.01 ↓91%780 ↑NDND
H300H*
P2‡NoneA274A*7 months/FWhite<0.01 ↓91%36891%642
H300H*
P51NoneH300H**10 months/FHispanic0.8 ↓64% ↓96 ↓83%1272 ↑
P47NoneH300H*15 months/MWhite<0.01 ↓83%213 ↓93%1061
P43NoneA274A*16 months/MWhite<0.01 ↓94% ↑30697% ↑831
H300H**
P52NANA19 months/FAustralianNA84%40690%1217 ↑
P49NANA21 months/FHispanicNA93% ↑36996% ↑3238 ↑
P63NoneNone19 months/MWhite<0.01 ↓NDNDNDND
P14‡NoneA91V*3 years/FIsraeli<0.01 ↓NDNDNDND
A274A*
H300H*
P48NANA3 years/MWhite<0.01 ↓99% ↑662 ↑99% ↑3679 ↑
P54NANA12 years/MChinese0.6 ↓81%228 ↓92%869
P55‡NoneA91V*15 years/MWhite<0.01 ↓NDNDNDND
H300H*
P45NoneH300H*16 years/MWhite0.04 ↓14% ↓29232% ↓736
P62§NoneA274A*WhiteNDNDNDNDND
H300H**
H300H*
Median values7 months0.0191%35892%1198
Normal range>3.2<1 year: 94 (3)373 (129)86 (9)786 (286)
1–15 years: 86 (5)