Clinical characteristics and ongoing treatment of patients
| Disease group | Patient | Diagnosis | NLRP3 mutation | Age (years) | Clinical manifestations | Elevation acute phase reactants | Treatment |
|---|---|---|---|---|---|---|---|
| CAPS | #1 | CINCA | N477K | 14 years 6 months | − | + | Canakinumab |
| CAPS | #2 | MW | R260W | 13 years | − | + | None |
| CAPS | #3 | MW | R260W | 43 years | + | + | Anakinra |
| CAPS | #4 | CINCA | M406I | 8 years 2 months | − | − | Anakinra |
| CAPS | #5 | CINCA | D303N | 9 years 2 months | + | + | None |
| CAPS | #6 | CINCA | T348M | 15 years 10 months | − | − | Canakinumab |
| CAPS | #7 | CINCA | D303N | 3 years 5 months | − | − | Anakinra |
| CAPS | #8 | CINCA | I572F | 12 years 3 months | + | + | None |
| JIA | #1 | Oligo JIA | ND | 18 years 8 months | − | + | None |
| JIA | #2 | Oligo JIA | ND | 15 years 2 months | + | + | NSAID |
| JIA | #3 | Oligo JIA | ND | 6 years 11 months | + | + | MTX |
| JIA | #4 | Oligo JIA | ND | 10 years 7 months | + | + | MTX |
| JIA | #5 | Oligo JIA | ND | 2 years 4 months | + | + | MTX |
| SLE | #1 | SLE | ND | 18 years 7 months | − | + | Prednisone |
| SLE | #2 | SLE | ND | 20 years 9 months | − | + | Mycophenolate |
| SLE | #3 | SLE | ND | 20 years 4 months | − | − | Prednisone+ciclosporin+hydroxychloroquine |
| SLE | #4 | SLE | ND | 10 years 1 months | − | − | Prednisone+hydroxychloroquine |
| SLE | #5 | SLE | ND | 18 years 2 months | − | − | Prednisone+hydroxychloroquine |
| SLE | #6 | SLE | ND | 18 years 7 months | + | + | Prednisone+hydroxychloroquine |
CAPS, cryopyrin-associated periodic syndromes; CINCA, chronic infantile neurological cutaneous articular syndrome; JIA, juvenile idiopathic arthritis; MTX, methotrexate; MW, Muckle Wells; ND, not done; NSAID, non-steroidal anti-inflammatory drug; SLE, systemic lupus erythematosus.