Genotype and clinical characterisation of FMF patient cohort
Case No | MEFV mutation | ESR (mm/1 h) | CRP (mg/dl) | SAA (mg/dl) | Clinical manifestations | Colchicine treatment |
---|---|---|---|---|---|---|
1 | K695R/K695R | 31 | 4.56 | 157 | Absent | Yes |
2 | E148Q | <10 | <0.46 | 0 | Absent | No |
3 | M680I/M608I | 43 | 6.15 | 650 | Absent | Yes |
4 | M694I/M604V | <10 | <0.46 | 0 | Absent | Yes |
5 | E148Q | <10 | <0.46 | 0 | Absent | Yes |
6 | S108R-V726A in cis | <10 | <0.46 | 0 | Absent | Yes |
7 | S108R-V726A in cis | <10 | <0.46 | 0 | Absent | No |
8 | E148Q | <10 | <0.46 | 0 | Absent | No |
9 | M680l-E225G in cis/E148Q | N/A | N/A | N/A | Absent | Yes |
10 | M680l-E225G in cis | <10 | <0.46 | 0 | Absent | Yes |
11 | M694V/V726A | <10 | <0.46 | 0 | Absent | Yes |
12 | M694V/V726A | <10 | <0.46 | 0 | Absent | No |
13 | M694V/V726A | <10 | <0.46 | 0 | Absent | Yes |
14 | M680l/R761H | <10 | <0.46 | 0 | Absent | Yes |
15 | M694V | <10 | <0.46 | 0 | Absent | Yes |
16 | M694V | N/A | N/A | N/A | Absent | Yes |
17 | F479L/F479L | <10 | <0.46 | 0 | Absent | Yes |
18 | M694V/M694V | 55 | 9.57 | 634 | Absent | Yes |
19 | A408Q-P369S in cis | 49 | 2.69 | 0 | Absent | Yes |
20 | M694V | <10 | <0.46 | 0 | Absent | Yes |
21 | R42W/E230K | 23 | 0.62 | 50 | Absent | No |
CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; FMF, familial Mediterranean fever; N/A, not applicable; SAA, serum amyloid A.