Table 2.
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.