Characteristics of the 19 patients with a genetic diagnosis of TRAPS
| Patients* | Ethnic background | Sex | Age at onset (years) | Episode duration (days) | Episode frequency(per month) | Fever | Abd | Art | Tho | Cut | Myalgia | Peri-orbital oedema | Other signs | Cortico-steroids efficacy | TNFRSFIA genotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Abd, abdominal signs; Art, articular signs; Cut, cutaneous signs; F, female; M, male; ND, not determined; NT, not treated; Tho, thoracic signs; +, presence of symptoms; −, absence of symptoms. | |||||||||||||||
| *Patients’ relationships: 1a and 1b are siblings; 2a is the mother of 2b and 2c; 8a and 8b are siblings. | |||||||||||||||
| 1a | French | F | <1 | 1–2 | <1 | + | + | + | + | – | – | – | – | + | C30R |
| 1b | French | M | <1 | 1–2 | <1 | + | + | + | – | – | – | – | – | + | C30R |
| 2a | Greek | F | 4 | 14 | 1 | + | + | + | – | – | – | – | – | NT | C73W |
| 2b | Greek | F | 2 | 2 | 2 | + | + | + | – | – | + | – | Pharyngitis | NT | C73W |
| 2c | Greek | F | 2 | 10 | 1–2 | + | + | + | – | – | + | – | – | NT | C73W |
| 3 | French | F | 1 | 15 | 1–2 | + | + | + | – | + | + | – | Conjunctivitis | – | H69fs |
| 4 | Spaniard | F | 6 | ND | >2 | + | + | + | + | – | + | – | – | – | L39F |
| 5 | Arab | M | 2 | 3–4 | 1 | + | + | + | – | + | – | – | Splenomegaly | NT | P46L |
| 6 | Turkish | M | 10 | ND | >2 | – | + | + | – | – | + | – | – | + | P46L |
| 7 | French | M | 43 | 5 | 2 | + | – | + | – | – | – | – | – | NT | P46L |
| 8a | Sefardi-Jews | F | ND | Chronic | Chronic | – | – | + | – | – | – | – | Aphtosis | NT | R92Q |
| 8b | Sefardi-Jews | M | 10 | 1 | <1 | – | + | – | – | – | – | – | Conjunctivitis | NT | R92Q |
| 9 | Italian | M | 26 | 10 | <1 | + | – | + | – | – | + | – | Aphtosis | + | R92Q |
| 10 | French | M | 19 | 3 | <1 | + | + | + | – | – | + | – | – | – | R92Q |
| 11 | French | M | 32 | Chronic | Chronic | + | – | + | + | + | – | – | – | NT | R92Q |
| 12 | Jewish | F | 12 | 2 | <1 | + | + | + | + | – | – | – | – | ND | R92Q |
| 13 | French | M | ND | 3–5 | <1 | + | + | + | – | – | + | – | – | NT | R92Q |
| 14 | French | M | 10 | 10 | <1 | + | – | + | + | – | – | – | – | NT | R92Q |
| 15 | French | M | 24 | 4 | 1–2 | ND | – | – | + | – | + | – | Aphtosis | NT | R92Q |