Table 1
Pt | Sex | Mutation | Main manifestations | Manifestations in the 24 months before treatment | N± of flares during follow-up | Treatment (dose, duration) |
|---|---|---|---|---|---|---|
1 | F | E256G | Pyogenic arthritis Pyoderma gangrenosum Cystic acne/foruncolosis | 2 flares of pyogenic arthritis 5 pyoderma gangrenosum Cystic acne | 0 | Anakinra 100 mg/day (36 months) |
2 | F | E250Q | Pyogenic arthritis Sterile osteomyelitis Palpebral edema | 3 flares of pyogenic arthritis 1 sterile osteomyelitis 1 palpebral edema | 0 | Anakinra 2 mg/kg/day (21 months) |
3 | M | E250Q | Pyogenic arthritis | 7 flares of pyogenic arthritis (polyarticular) | 3 (mild) articular flares | Anakinra 1.5 mg/kg/day (38 months) and low dose steroid |
4 | M | WT | Cutaneous abscesses Pyoderma gangrenosum Pyogenic muscular abscess | 1 persistent muscular abscess | 0 | Anakinra 100 mg/day (26 months) |
5 | M | E250K | Pyogenic arthritis Pyoderma gangrenosum Severe anemia Splenomegaly Growth delay | 1 cutaneous abscess 3 pyoderma gangrenosum Anemia | 1 pyoderma gangrenosum (resolved after Canakinumab) | Anakinra 2 mg/kg/day (31 months) - Canakinumab (4 months) |
6 | F | E250Q | Dactylitis/tendinitis Pyogenic arthritis Acne and furunculosis | 6 articular flares | 0 | Anakinra 100 mg/day (4 months) |