Clinical features and details of anti-IL-1 therapy in patients
| Pt no. . | Genetic mutation . | Age at presentation of IMs, y . | Prominent fever or systemic symptoms . | Skin involvement (beside eczema) . | Arthritis . | IBD . | Response to CS . | Anti-IL1 drug (age at first use, y) . | Drug dose . | Response to anti-IL1 therapy . | Effect of therapy suspension . | Adverse effects of therapy . | Therapy duration, y . | Reason for discontinuation . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.276_279dup | 0.2 | Yes | Vasculitis, erythematous papules, scalp blisters | Hands/feet | No | Partial | Anakinra (0.25) | 3 mg/kg/d | Complete | Not tried | No | 0.25 | DT |
| 2 | c.397G>A | 4 (1 y after 1st HSCT) | No | Vasculitis-like lesions of left foot/hand | Ankle, hands | No | Complete | Colchicine (5) | 50 mcg/kg/d | Partial | Not tried | No | 1 | Loss of efficacy |
| Anakinra (6) | 1.5 mg/kg/d | Complete | Symptoms recurrence | No | 2 | DT | ||||||||
| 3 | del Xp11.23 | 5.5 (5 y after HSCT) | No | Erysipelas-like inflammation of lower limbs | Knees, ankles | No | Partial | Anakinra (14) | 3 mg/kg/d | Complete | Not tried | Injection site pain | 0.1 | Adverse effects |
| Canakinumab (14.2) | 2 mg/kg/4 wk | Complete | Not tried | No | 1 | Ongoing | ||||||||
| 4 | c.712_713delAT | 4 | No | Pyoderma gangrenosum, sterile abscesses | No | No | Partial | Canakinumab (7.5) | 4 mg/kg/4 wk | Complete | Symptoms recurrence | No | 4 | DT |
| 5 | c.1225G>T | At birth | Yes | Necrotizing vasculitis, rash, panniculitis, pustular psoriasis | No | Yes | Partial | Anakinra (0.1) | 5 mg/kg/d | Complete | Symptoms recurrence | Lipohypertrophy, injection anxiety | 8 | Adverse effects |
| Colchicine (3) | 50 mcg/kg/d | ND (given with anakinra) | Yes | No | 4 | Not effective | ||||||||
| Canakinumab (8) | 3.5-5.6 mg/kg/4 wk | Complete | Symptoms recurrence | No | 1 | Ongoing | ||||||||
| 6 | c.97C>T | At birth | No | No | No | Yes | Partial | Anakinra (0.58) | 3-4 mg/kg/d | Partial | Not tried | No | 0.66 | DT |
| 7 | c.160_165del | 1.75 | No | Cutaneous vasculitis and edema | Ankle | Yes | Partial | Anakinra (1.75) | 2 mg/kg/d | Complete | Symptoms recurrence | No | 0.3 | DT |
| 8 | c.1384_1385delAG | 0.2 | Yes | Migrating erysipelas-like lesions; vasculitis | No | No | No | Anakinra (0.3) | 5 mg/kg/d | Complete | Symptoms recurrence | Hypereosinophilia | 0.75 | DT |
| 9 | inv(X)g.5721-11840 | 1.5 | No | Pyoderma gangrenosum | No | Yes | Partial | Anakinra (11.8) | 3 mg/kg/d | Complete | Symptoms recurrence | No | 0.6 | DT |
| Pt no. . | Genetic mutation . | Age at presentation of IMs, y . | Prominent fever or systemic symptoms . | Skin involvement (beside eczema) . | Arthritis . | IBD . | Response to CS . | Anti-IL1 drug (age at first use, y) . | Drug dose . | Response to anti-IL1 therapy . | Effect of therapy suspension . | Adverse effects of therapy . | Therapy duration, y . | Reason for discontinuation . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.276_279dup | 0.2 | Yes | Vasculitis, erythematous papules, scalp blisters | Hands/feet | No | Partial | Anakinra (0.25) | 3 mg/kg/d | Complete | Not tried | No | 0.25 | DT |
| 2 | c.397G>A | 4 (1 y after 1st HSCT) | No | Vasculitis-like lesions of left foot/hand | Ankle, hands | No | Complete | Colchicine (5) | 50 mcg/kg/d | Partial | Not tried | No | 1 | Loss of efficacy |
| Anakinra (6) | 1.5 mg/kg/d | Complete | Symptoms recurrence | No | 2 | DT | ||||||||
| 3 | del Xp11.23 | 5.5 (5 y after HSCT) | No | Erysipelas-like inflammation of lower limbs | Knees, ankles | No | Partial | Anakinra (14) | 3 mg/kg/d | Complete | Not tried | Injection site pain | 0.1 | Adverse effects |
| Canakinumab (14.2) | 2 mg/kg/4 wk | Complete | Not tried | No | 1 | Ongoing | ||||||||
| 4 | c.712_713delAT | 4 | No | Pyoderma gangrenosum, sterile abscesses | No | No | Partial | Canakinumab (7.5) | 4 mg/kg/4 wk | Complete | Symptoms recurrence | No | 4 | DT |
| 5 | c.1225G>T | At birth | Yes | Necrotizing vasculitis, rash, panniculitis, pustular psoriasis | No | Yes | Partial | Anakinra (0.1) | 5 mg/kg/d | Complete | Symptoms recurrence | Lipohypertrophy, injection anxiety | 8 | Adverse effects |
| Colchicine (3) | 50 mcg/kg/d | ND (given with anakinra) | Yes | No | 4 | Not effective | ||||||||
| Canakinumab (8) | 3.5-5.6 mg/kg/4 wk | Complete | Symptoms recurrence | No | 1 | Ongoing | ||||||||
| 6 | c.97C>T | At birth | No | No | No | Yes | Partial | Anakinra (0.58) | 3-4 mg/kg/d | Partial | Not tried | No | 0.66 | DT |
| 7 | c.160_165del | 1.75 | No | Cutaneous vasculitis and edema | Ankle | Yes | Partial | Anakinra (1.75) | 2 mg/kg/d | Complete | Symptoms recurrence | No | 0.3 | DT |
| 8 | c.1384_1385delAG | 0.2 | Yes | Migrating erysipelas-like lesions; vasculitis | No | No | No | Anakinra (0.3) | 5 mg/kg/d | Complete | Symptoms recurrence | Hypereosinophilia | 0.75 | DT |
| 9 | inv(X)g.5721-11840 | 1.5 | No | Pyoderma gangrenosum | No | Yes | Partial | Anakinra (11.8) | 3 mg/kg/d | Complete | Symptoms recurrence | No | 0.6 | DT |
Abbreviations: CS, corticosteroids; DT, definitive therapy; HSCT, hematopoietic stem cell transplantation; IBD, inflammatory bowel disease; IL, interleukin; IMs, inflammatory manifestations; ND, nondeterminable; Pt, patient.