Characteristics of the eight patients with a genetic diagnosis of cryopyrin-associated periodic syndrome
| Patient* | Ethnic background | Sex | Age at onset (years) | Episode frequency (per month) | Episode duration (days) | Fever | Abd | Art | Tho | Urticaria | Deafness | Meningitis | Other signs | CIAS1 mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Abd, abdominal signs; Art, articular signs; F, female; M, male; Tho, thoracic signs; +, presence of symptoms; −, absence of symptoms. | ||||||||||||||
| *Patients’ relationships: 1b is the mother of 1a; Sibships: 3a and 3b. | ||||||||||||||
| 1a | French | M | 3 | <1 | >7 | + | + | + | – | + | – | – | Oedema | V198M |
| 1b | French | F | 5 | <1 | >7 | – | – | + | – | + | – | – | Oedema | V198M |
| 3a | Italian | F | 15 | 2 | 1–2 | + | + | + | + | + | – | – | Myalgia, Uveitis | R260W |
| 3b | Italian | M | 7 | 1–2 | 1–2 | + | – | + | – | + | + | – | Myalgia, Uveitis Bi-polar aphtosis | R260W |
| 4 | Italian | F | 8 | 1–2 | 1 | + | – | + | – | + | – | – | – | R260W |
| 5 | French | F | 0–1 | 1 | 14 | + | – | + | – | + | + | – | Conjunctivitis | T348M |
| 6 | French | F | <1 | >2 | 1 | + | – | + | – | + | – | – | – | D303N |
| 7 | French | F | <1 | 1–2 | 1–2 | + | – | + | – | + | – | – | Conjunctivitis | D303N |