Characteristics of the 15 patients with a positive genetic diagnosis of familial Mediterranean fever and an improbable clinical diagnosis according to Livneh’s criteria
| Ethnic background | Sex | Age at inclusion in the study | Major criteria | Minor criteria | Other signs | Genotype |
|---|---|---|---|---|---|---|
| F, female; FMF, familial Mediterranean fever; M, male. | ||||||
| Arab | M | 14 | No | Incomplete joint episodes | Familial FMF, atypical abdominal signs | M694I/M694I |
| Arab | M | 11 | No | No | Splenomegaly, myalgia, atypical articular signs | M694I/M694I |
| Arab | M | 20 | No | Incomplete chest episodes | No | M694I/M694I |
| Arab | F | 38 | No | Incomplete chest episodes | Atypical abdominal signs | M694I/V726A |
| Armenian | F | 36 | No | No | Familial FMF, atypical articular signs | R761H/E148Q |
| Jewish | M | 21 | No | No | Familial FMF, Crohn’s disease | M694V/M694V |
| Jewish | F | 34 | No | Incomplete joint episodes | No | M694V/R761H |
| Jewish | M | 13 | No | Incomplete chest episodes | No | M694V/M694V |
| Jewish | F | 23 | No | Favourable response to colchicine | Atypical abdominal and articular signs | E148Q/M694V |
| Jewish | M | 4 | No | Incomplete joint episodes | Familial FMF | M694V/M694V |
| Turkish | M | 55 | No | Favourable response to colchicine | Splenomegaly, atypical abdominal and articular signs | E148Q/M694V |
| Turkish | M | 9 | No | No | Familial FMF, myalgia, atypical abdominal and articular signs | M680I/M694V |
| Turkish | M | 6 | No | Incomplete chest episodes | Familial FMF | M694V/V726A |
| Turkish | M | 8 | No | Incomplete joint episodes | No | M694V/M694V |
| French | F | 52 | No | Incomplete joint episodes | No | E148Q/E148Q |