Table 1. Clinical features of patients.
Characteristics | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6/sibling of patient 5 |
Age (year)/sex | 4/M | 10/F | 6/F | 8/M | 11/M | 9/F |
Age of initial symptoms | 4 month | 2 year | 5 year | 9 month | Infancy | Infancy |
Age of diagnosis (year) | 1 | 9 | 6 | 6 | 10 | 8 |
Fever | + | - | - | - | - | - |
Arthritis | - | + | + | + | + | + |
Dermatitis | + | - | + | - | - | - |
Uveitis | - | - | - | - | - | - |
Tenosynovitis | - | + | + | + | + | + |
Camptodactyly | - | + | + | + | + | + |
Kidney | - | + | - | - | - | - |
Liver | + | - | - | - | - | |
LAP | + | - | - | - | - | - |
Lung | - | - | - | - | - | - |
High APR | + | + | - | - | - | + |
High ACE | - | - | - | - | - | - |
Mutations | P268S/V955I | M513T/- | R702W/SNP8 | H343Y/- | V955I/M491L | M491L |
MEFV mutations | R761H/- | - | - | E148Q/- | E148Q/- | - |
Previous treatment | Steroid, MTX, | Steroid, MTX, | NSAI, MTX | NSAI, MTX, | NSAI, MTX | NSAI, MTX |
ANA, ADA, | ETA, TOS | ETA, TOS, | ||||
IFN | ADA, INF, CAN | |||||
Current treatment | LDS, CAN | MTX, INF | MTX | LDS, Siklosporin | MTX, INF | MTX, INF |
LAP: Lymphadenopathy; APR: Acute Phase Reactans; ACE: Angiotensin converting enzyme; MEFV: Mediterranean fever; MTX: Methotrexate; ANA: Anakinra; ADA: Adalimumab; IFN: Infliximab; ETA: Etanercept; TOS: Tosilizumab; NSAI: Non-steroid anti-inflammatory drugs; CAN: Canakinumab; LDS: Low dose steroid. |