Adult patients with sequence variants in PRF1, MUNC13-4, and STXBP2
| Patient ID . | Age at onset, y . | Sex . | Ethnicity . | Symptoms/clinical diagnosis† . | PRF1 results . | MUNC13-4 results . | STXBP2 results . | NK-cell function . | % perforin in NK cells . |
|---|---|---|---|---|---|---|---|---|---|
| P1 | 18 | M | A | HLH | 10 C > T (R4C)/98 G > A (R33H)‡ | NL/NL | ND | 14.8 | ND |
| P2 | 18 | M | W | HLH | 1066 C > T (R356W)/1349C > T (T450M) | NL/NL | ND | ND | ND |
| P3 | 18 | F | W | ALL without remission; suspected HLH | 272 C > T (A91V)/NL | NL/NL | ND | Absent | 90 |
| P4 | 18 | F | W | HLH | 272 C > T (A91V)/NL | NL/NL | ND | 1.6 (low) | ND |
| P5 | 18 | M | W | Mycosis fungoides, lymphadenopathy; suspected HLH | 272 C > T (A91V)/NL | NL/NL | ND | ND | ND |
| P6 | 18 | F | B | HLH | NL/NL | 1579 C > T (R527W)/NL | ND | ND | ND |
| P7 | 18 | M | W | Neutropenia; suspected HLH | 272 C > T (A91V)/1042 G > A (R348H)‡ | ND | ND | ND | ND |
| P8 | 19 | M | W | MAS in infancy, severe vasculitis with CNS involvement | 272 C > T (A91V)/NL | NL/NL | ND | 3.3 | 81 |
| P9 | 19 | F | H | Suspected HLH | 1229 G > A (R410Q)†/NL | NL/NL | ND | ND | 75 (low) |
| P10 | 19 | F | W | Suspected HLH | 272 C > T (A91V)/563 C > T (P188L)‡ | NL/NL | ND | 2.2 (low) | 39 (low) |
| P11 | 19 | F | W | HLH | NL/NL | 753 + 3G > A/NL | ND | Absent | 98 |
| P12 | 19 | M | A | EBV encephalitis and seizures; suspected HLH | ND | 2240 G > A (S747N)‡/2553 + 5C > G‡ | ND | ND | ND |
| P13 | 19 | F | W | HLH | NL/NL | 753 + 3G > A/NL | ND | ND | ND |
| P14 | 21 | F | W | Suspected HLH | 1310 C > T (A437V)‡/NL | NL/NL | ND | Absent | 61 (low) |
| P15 | 23 | F | W | HLH | 1066 C > T (R356W)/1066 C > T (R356W) | NL/NL | ND | ND | 7 (low) |
| P16 | 24 | M | W | Suspected HLH | NL/NL | 2174 A > G (E725G)‡/NL | ND | Absent | ND |
| P17 | 24 | M | W (Arabic) | HLH | NL/NL | NL/NL | 1782(*12) g > a/1782(*12) g > a | 0.3 (low) | 69 (low) |
| P18 | 25 | F | W | Suspected HLH | 272 C > T (A91V)/NL | NL/NL | 795-4C > T/ NL | 3.7 | ND |
| P19 | 25 | F | H | HLH | 445 G > A (G149S)/695 G > A (R232H) + 272 C > T (A91V) | NL/NL | ND | 2.2 (low) | Absent |
| P20 | 28 | F | A | Suspected HLH | 10 C > T (R4C)/NL | NL/NL | ND | ND | ND |
| P21 | 28 | M | W | HLH; male sibling died with HLH | 272 C > T (A91V)/NL | 182 A > G (Y61C)‡/NL | NL | ND | ND |
| P22 | 30 | M | A | Suspected HLH | ND | 1369 C > A (L457M)‡/2447 + 61_2447 + 150del 90‡ | ND | 38.4 | 97 |
| P23 | 66 | F | W | HLH | 272 C > T (A91V)/NL | NL/NL | ND | ND | ND |
| P24 | 74 | M | W | HLH | 272 C > T (A91V)/NL | ND | ND | 3.8 | 61 (low) |
| P25 | 75 | M | W | HLH | 272 C > T (A91V)/272 C > T (A91V) | NL/NL | NL | low§ | 24 (low) |
| Patient ID . | Age at onset, y . | Sex . | Ethnicity . | Symptoms/clinical diagnosis† . | PRF1 results . | MUNC13-4 results . | STXBP2 results . | NK-cell function . | % perforin in NK cells . |
|---|---|---|---|---|---|---|---|---|---|
| P1 | 18 | M | A | HLH | 10 C > T (R4C)/98 G > A (R33H)‡ | NL/NL | ND | 14.8 | ND |
| P2 | 18 | M | W | HLH | 1066 C > T (R356W)/1349C > T (T450M) | NL/NL | ND | ND | ND |
| P3 | 18 | F | W | ALL without remission; suspected HLH | 272 C > T (A91V)/NL | NL/NL | ND | Absent | 90 |
| P4 | 18 | F | W | HLH | 272 C > T (A91V)/NL | NL/NL | ND | 1.6 (low) | ND |
| P5 | 18 | M | W | Mycosis fungoides, lymphadenopathy; suspected HLH | 272 C > T (A91V)/NL | NL/NL | ND | ND | ND |
| P6 | 18 | F | B | HLH | NL/NL | 1579 C > T (R527W)/NL | ND | ND | ND |
| P7 | 18 | M | W | Neutropenia; suspected HLH | 272 C > T (A91V)/1042 G > A (R348H)‡ | ND | ND | ND | ND |
| P8 | 19 | M | W | MAS in infancy, severe vasculitis with CNS involvement | 272 C > T (A91V)/NL | NL/NL | ND | 3.3 | 81 |
| P9 | 19 | F | H | Suspected HLH | 1229 G > A (R410Q)†/NL | NL/NL | ND | ND | 75 (low) |
| P10 | 19 | F | W | Suspected HLH | 272 C > T (A91V)/563 C > T (P188L)‡ | NL/NL | ND | 2.2 (low) | 39 (low) |
| P11 | 19 | F | W | HLH | NL/NL | 753 + 3G > A/NL | ND | Absent | 98 |
| P12 | 19 | M | A | EBV encephalitis and seizures; suspected HLH | ND | 2240 G > A (S747N)‡/2553 + 5C > G‡ | ND | ND | ND |
| P13 | 19 | F | W | HLH | NL/NL | 753 + 3G > A/NL | ND | ND | ND |
| P14 | 21 | F | W | Suspected HLH | 1310 C > T (A437V)‡/NL | NL/NL | ND | Absent | 61 (low) |
| P15 | 23 | F | W | HLH | 1066 C > T (R356W)/1066 C > T (R356W) | NL/NL | ND | ND | 7 (low) |
| P16 | 24 | M | W | Suspected HLH | NL/NL | 2174 A > G (E725G)‡/NL | ND | Absent | ND |
| P17 | 24 | M | W (Arabic) | HLH | NL/NL | NL/NL | 1782(*12) g > a/1782(*12) g > a | 0.3 (low) | 69 (low) |
| P18 | 25 | F | W | Suspected HLH | 272 C > T (A91V)/NL | NL/NL | 795-4C > T/ NL | 3.7 | ND |
| P19 | 25 | F | H | HLH | 445 G > A (G149S)/695 G > A (R232H) + 272 C > T (A91V) | NL/NL | ND | 2.2 (low) | Absent |
| P20 | 28 | F | A | Suspected HLH | 10 C > T (R4C)/NL | NL/NL | ND | ND | ND |
| P21 | 28 | M | W | HLH; male sibling died with HLH | 272 C > T (A91V)/NL | 182 A > G (Y61C)‡/NL | NL | ND | ND |
| P22 | 30 | M | A | Suspected HLH | ND | 1369 C > A (L457M)‡/2447 + 61_2447 + 150del 90‡ | ND | 38.4 | 97 |
| P23 | 66 | F | W | HLH | 272 C > T (A91V)/NL | NL/NL | ND | ND | ND |
| P24 | 74 | M | W | HLH | 272 C > T (A91V)/NL | ND | ND | 3.8 | 61 (low) |
| P25 | 75 | M | W | HLH | 272 C > T (A91V)/272 C > T (A91V) | NL/NL | NL | low§ | 24 (low) |
NL indicates normal, wild type; ND, not done; W, nonHispanic white; B, black; A, Asian; H, Hispanic; and LU, lytic units.
Mutation occurred at the 3′LITR region.
Information collected was based on physician's notes on the requisition form.
Previously unreported variants not found in our control population.
Test was done in another institution so the number is not available.