Table 5

 Characteristics of the eight patients with a genetic diagnosis of cryopyrin-associated periodic syndrome

Patient*Ethnic backgroundSexAge at onset (years)Episode frequency (per month)Episode duration (days)FeverAbdArtThoUrticariaDeafnessMeningitisOther signsCIAS1 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.
1aFrenchM3<1>7++++OedemaV198M
1bFrenchF5<1>7++OedemaV198M
3aItalianF1521–2+++++Myalgia, UveitisR260W
3bItalianM71–21–2++++Myalgia, Uveitis Bi-polar aphtosisR260W
4ItalianF81–21+++R260W
5FrenchF0–1114++++ConjunctivitisT348M
6FrenchF<1>21+++D303N
7FrenchF<11–21–2+++ConjunctivitisD303N