Clinical profiles and CIAS1 mutations identified in 11 patients with cryopyrin-associated periodic syndrome
Patient number . | Diagnosis . | Age, y* . | Sex . | Initial classification . | Site of mutation . | Biologics therapy . | Central nervous system . | Skin . | Articular . | Reference number . | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Mental retardation . | Meningitis . | Urticarial rash† . | Arthritis . | Contracture . | ||||||||
1 | CINCA | 2 | Female | Mutation-positive | N477K (1431C>A) | None | − | + | + | − | − | (28) |
2 | CINCA | 3 | Female | Mutation-positive | G755R (2263G>C) | Anakinra | + | + | + | + | − | (29) |
3 | CINCA | 12 | Male | Mutation-positive | M662T (1985T>C) | None | − | + | + | + | − | — |
4‡ | CINCA | 12 | Male | Mutation-positive | R260W (778C>T) | None | − | + | + | + | − | — |
5 | CINCA | 13 | Male | Mutation-positive | D303N (907G>A) | None | − | + | + | + | − | — |
6 | CINCA | 14 | Male | Mutation-positive | Y441H (1321C>T) | Tocilizumab | + | + | + | + | − | — |
7 | CINCA | 15 | Male | Mosaic | Y570C (1709A>G) | Anakinra§ | − | + | + | + | + | (12) |
8 | CINCA | 18 | Female | Mutation-negative | L264F (790C>T) | None | − | + | + | − | − | (30) |
9 | CINCA | 11 | Male | Mutation-negative | G307S (919G>A) | None | − | − | + | + | + | — |
10 | MWS | 27 | Female | Mutation-negative | E567K (1699G>A) | None | − | Not assessed | + | + | − | (31) |
11 | CINCA | 11 | Male | Mutation-negative | Unknown | None | + | + | + | + | − | (32) |
Patient number . | Diagnosis . | Age, y* . | Sex . | Initial classification . | Site of mutation . | Biologics therapy . | Central nervous system . | Skin . | Articular . | Reference number . | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Mental retardation . | Meningitis . | Urticarial rash† . | Arthritis . | Contracture . | ||||||||
1 | CINCA | 2 | Female | Mutation-positive | N477K (1431C>A) | None | − | + | + | − | − | (28) |
2 | CINCA | 3 | Female | Mutation-positive | G755R (2263G>C) | Anakinra | + | + | + | + | − | (29) |
3 | CINCA | 12 | Male | Mutation-positive | M662T (1985T>C) | None | − | + | + | + | − | — |
4‡ | CINCA | 12 | Male | Mutation-positive | R260W (778C>T) | None | − | + | + | + | − | — |
5 | CINCA | 13 | Male | Mutation-positive | D303N (907G>A) | None | − | + | + | + | − | — |
6 | CINCA | 14 | Male | Mutation-positive | Y441H (1321C>T) | Tocilizumab | + | + | + | + | − | — |
7 | CINCA | 15 | Male | Mosaic | Y570C (1709A>G) | Anakinra§ | − | + | + | + | + | (12) |
8 | CINCA | 18 | Female | Mutation-negative | L264F (790C>T) | None | − | + | + | − | − | (30) |
9 | CINCA | 11 | Male | Mutation-negative | G307S (919G>A) | None | − | − | + | + | + | — |
10 | MWS | 27 | Female | Mutation-negative | E567K (1699G>A) | None | − | Not assessed | + | + | − | (31) |
11 | CINCA | 11 | Male | Mutation-negative | Unknown | None | + | + | + | + | − | (32) |