Relation of genotype to the cytotoxic functions of NK cells and CTLs in patients with the FHL2 or FHL3 subtypes
Subtype and UPN . | Age/sex . | Mutations . | NK activity at diagnosis, % (% after treatment) . | CTLs, %* . | Western blot (active protein) . | Outcome . | HSCT . |
|---|---|---|---|---|---|---|---|
| FHL2 | |||||||
| 17 | 2 mo/F | 1090.91delCT/1090.91delCT | 2 (2) | 3.6 | Absent (p) | Dead | Y |
| 24 | 1 mo/F | 1090.91delCT/207delC | 1 (2) | 3.9 | Absent (p) | Alive | Y |
| 42 | 12 y/F | 1090.91delCT/1228C > T (mis) | 2 (2) | 41.2 | Reduced (p) | Alive | N |
| 53 | 7 y/F | 1349C > T (mis)/1349C > T (mis) | 0 (0) | 46.5 | Reduced (p) | Alive | Y |
| 26 | 11 y/F | 949G > A (mis)/1A > G (mis) | 2 (2) | 40.1 | Reduced (p) | Alive | Y |
| 36† | 1 mo/F | 1349C > T (mis)/1349C > T (mis) | 5 (5) | 40.9 | Reduced (p) | Alive | Y |
| FHL3 | |||||||
| 45 | 6 mo/M | 754-1G > C/754-1G > C | 10 (1) | 23.1 | Absent (m) | Alive | Y |
| 23 | 5 mo/M | 1596+1G > C/754-1G > C | 19 (12) | 23.8 | Absent (m) | Dead | Y |
Subtype and UPN . | Age/sex . | Mutations . | NK activity at diagnosis, % (% after treatment) . | CTLs, %* . | Western blot (active protein) . | Outcome . | HSCT . |
|---|---|---|---|---|---|---|---|
| FHL2 | |||||||
| 17 | 2 mo/F | 1090.91delCT/1090.91delCT | 2 (2) | 3.6 | Absent (p) | Dead | Y |
| 24 | 1 mo/F | 1090.91delCT/207delC | 1 (2) | 3.9 | Absent (p) | Alive | Y |
| 42 | 12 y/F | 1090.91delCT/1228C > T (mis) | 2 (2) | 41.2 | Reduced (p) | Alive | N |
| 53 | 7 y/F | 1349C > T (mis)/1349C > T (mis) | 0 (0) | 46.5 | Reduced (p) | Alive | Y |
| 26 | 11 y/F | 949G > A (mis)/1A > G (mis) | 2 (2) | 40.1 | Reduced (p) | Alive | Y |
| 36† | 1 mo/F | 1349C > T (mis)/1349C > T (mis) | 5 (5) | 40.9 | Reduced (p) | Alive | Y |
| FHL3 | |||||||
| 45 | 6 mo/M | 754-1G > C/754-1G > C | 10 (1) | 23.1 | Absent (m) | Alive | Y |
| 23 | 5 mo/M | 1596+1G > C/754-1G > C | 19 (12) | 23.8 | Absent (m) | Dead | Y |
Mutations in both alleles are listed in the table.
NK indicates natural killer; CTLs, cytotoxic T lymphocytes; p, perforin; mis, missense mutation; m, MUNC 13-4 protein; Y, yes; N, no; and UPN, unique patient number.
Mean CTL activity from 3 independent experiments at 10:1 of E/T ratio
FHL was diagnosed at 1 month of age, with relapse occurring 5 years later