Patients and Their FXII Parameters
| No. . | Patient . | FXII:C . | FXII:Ag . | PTT (s) . | Mutations . |
|---|---|---|---|---|---|
| Group I: CRM-negative patients with severe FXII deficiency | |||||
| 1 | A-42 | <1% | 1% | 122.2 | Taq I-A/Taq I-A |
| 2 | A-57 | 1% | ND | ND | Taq I-A/Taq I-A |
| 3 | A-94 | <1% | ND | ND | Taq I-A/Taq I-A |
| 4 | A-137 | 3% | ND | 300 | Taq I-A/Taq I-A |
| 5 | A-146 | 1% | 5% | >146 | Taq I-A/Taq I-A |
| 6 | A-149 | 1% | ND | 85 | Taq I-A/Taq I-A |
| 7 | B-D6 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 8 | B-G1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 9 | B-H1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 10 | B-i1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 11 | B-L4 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 12 | B-O1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 13 | B-P1 | <1% | ND | ND | Taq I-A/Taq I-A |
| 14 | B-A1 | <1% | 0% | ND | Taq I-A/Taq I-B |
| 15 | B-C1 | <1% | 0% | ND | Taq I-A/Taq I-B |
| 16 | c-17 | <1% | <1% | ND | Taq I-A/R398Q |
| 17 | A-90 | <1% | <1% | 121.9 | 11397(G → A)/11397(G → A) |
| 18 | A-54 | 5% | 1% | ND | Taq I-A/11397(G → A) |
| 19 | A-63 | 2.8% | 1% | 69.8 | Taq I-A/11397(G → A) |
| 20 | A-123 | 1% | ND | ND | Taq I-A/11397(G → A) |
| 21 | B-M2 | <1% | 0% | ND | Taq I-A/11397(G → A) |
| 22 | A-98 | 2.2% | <5% | 43.9 | 11397/(G → A)/L395M |
| Group II: CRM-negative patients compound heterozygous with only one mutation detected | |||||
| 23 | A-88 | 1% | ND | 65.8 | 11397(G → A) |
| 24 | A-89 | 1% | ND | 151.4 | Taq I-C |
| 25 | A-138 | 3% | ND | ND | Taq I-A |
| 26 | B-Q1 | <1% | 0 | ND | Taq I-A |
| Group III: CRM-negative patients with intermediate FXII activity | |||||
| 27 | B-E1 | 27% | 28% | ND | Taq I-A |
| 28 | B-F4 | 49% | 50% | ND | Taq I-A |
| 29 | A-117 | 42% | ND | ND | Taq I-A |
| Group IV: CRM-positive patients | |||||
| 30 | A-148 | 63% | 100% | 27.6 | D442N |
| 31 | C-82 | 10% | 74% | ND | G570R (11482 G → C) |
| No. . | Patient . | FXII:C . | FXII:Ag . | PTT (s) . | Mutations . |
|---|---|---|---|---|---|
| Group I: CRM-negative patients with severe FXII deficiency | |||||
| 1 | A-42 | <1% | 1% | 122.2 | Taq I-A/Taq I-A |
| 2 | A-57 | 1% | ND | ND | Taq I-A/Taq I-A |
| 3 | A-94 | <1% | ND | ND | Taq I-A/Taq I-A |
| 4 | A-137 | 3% | ND | 300 | Taq I-A/Taq I-A |
| 5 | A-146 | 1% | 5% | >146 | Taq I-A/Taq I-A |
| 6 | A-149 | 1% | ND | 85 | Taq I-A/Taq I-A |
| 7 | B-D6 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 8 | B-G1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 9 | B-H1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 10 | B-i1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 11 | B-L4 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 12 | B-O1 | <1% | 0% | ND | Taq I-A/Taq I-A |
| 13 | B-P1 | <1% | ND | ND | Taq I-A/Taq I-A |
| 14 | B-A1 | <1% | 0% | ND | Taq I-A/Taq I-B |
| 15 | B-C1 | <1% | 0% | ND | Taq I-A/Taq I-B |
| 16 | c-17 | <1% | <1% | ND | Taq I-A/R398Q |
| 17 | A-90 | <1% | <1% | 121.9 | 11397(G → A)/11397(G → A) |
| 18 | A-54 | 5% | 1% | ND | Taq I-A/11397(G → A) |
| 19 | A-63 | 2.8% | 1% | 69.8 | Taq I-A/11397(G → A) |
| 20 | A-123 | 1% | ND | ND | Taq I-A/11397(G → A) |
| 21 | B-M2 | <1% | 0% | ND | Taq I-A/11397(G → A) |
| 22 | A-98 | 2.2% | <5% | 43.9 | 11397/(G → A)/L395M |
| Group II: CRM-negative patients compound heterozygous with only one mutation detected | |||||
| 23 | A-88 | 1% | ND | 65.8 | 11397(G → A) |
| 24 | A-89 | 1% | ND | 151.4 | Taq I-C |
| 25 | A-138 | 3% | ND | ND | Taq I-A |
| 26 | B-Q1 | <1% | 0 | ND | Taq I-A |
| Group III: CRM-negative patients with intermediate FXII activity | |||||
| 27 | B-E1 | 27% | 28% | ND | Taq I-A |
| 28 | B-F4 | 49% | 50% | ND | Taq I-A |
| 29 | A-117 | 42% | ND | ND | Taq I-A |
| Group IV: CRM-positive patients | |||||
| 30 | A-148 | 63% | 100% | 27.6 | D442N |
| 31 | C-82 | 10% | 74% | ND | G570R (11482 G → C) |
Abbreviation: ND, not determined.