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. 2012 Dec 20;121(7):e14–e24. doi: 10.1182/blood-2012-05-425769

Table 2.

Characteristics of FHL patients subjected to qRT-PCR analysis

No. Patients Age of onset Mutation NK function (LU) siL2R Remarks
1 LH1 15 y ND 0.0 NA Late onset; relapse
2 LH2 2 mo PRF1, c.[50delT];c.[1442A > C] p.[L17fsX50[;p.[Q481P] 0.0 25 564 Early onset; FHL2
3 LH3 3 mo PRF1, c.[50delT];c.[1442A > C] p.[L17fsX50];p.[Q481P] 0.0 35 947 Early onset; FHL2
4 LH4 2 y NM 0.0 18 627 Early onset
5 LH6 12 y UNC13D, g.[1389(+1)G > A];g.[?] 0.0 Late onset; relapse
6 LH7 15 y UNC13D, c.[847A > G];c.[847A > G], p.I283V 0.0 43 044 Late onset; FHL3
7 LH8 2 y NM 4.4 39 815 Early onset
8 LH9 2 y NM 0.3 51 325 Early onset
9 LH11 13 y PRF1, c.[272C > T];c.[?], p.[A91V] 7.9 7704 Late onset; A91V polymorphism
10 LH12 2 y NM 0.0 20 240 Early onset
11 LH13 2y NM 0.0 NA Early onset
12 LH15 11 y ND 0.1 15 689 Consanguinity; late onset; relapse
13 LH16 12 y ND 0.0 119,585 Late onset
14 LH17 14 y NM 0.0 11 030 Late onset; relapse
15 LH18 15 y NM 0.1 3016 Late onset
16 LH19 7 y NM NA 20 870 Late onset
17 LH20 9 y NM 0.0 NA Late onset
18 LH21 6 y NM 0.0 87 667 Late onset; relapse
19 LH22 10 y NM 0.0 NA Late onset
20 LH23 5 y NM 0.0 NA Late onset
21 LH26 19 y NM 0.0 NA Late onset; relapse; received HSCT

ND indicates not determined; NM, no mutations in PRF1, UNC13D, STX11, STXBP2, or RAB27A were detected; and LU, lytic units.