Table 1 Demographic and clinical features of four Chinese patients with BS
From: Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome
Patients | 1 | 2 | 3 | 4 |
|---|---|---|---|---|
Gender | Female | Male | Female | Female |
Age at diagnosis (years) | 32 | 8 | 36 | 25 |
Age at onset (years) | 6 | 0.5 | 7 | 6 |
Ethnicity | Han | Han | Han | Han |
Family history | + | + | + | – |
Clinical features | ||||
Joint | + | + | + | + |
Skin | + | + | + | – |
Eye | + | – | + | + |
Fever | + | – | – | – |
NOD2 variants | R334W | R334W | R334W | R334Q |
Laboratory findings | ||||
WBC (× 109/L) | 4.15 | 9.5 | 16.3 | 7.99 |
CRP (mg/L) | 3.48 | 20.0 | 33.01 | 3.4 |
ESR (mm/h) | 16 | 5 | 48 | 11 |
IL-1β (pg/ml) | 78.0 | 77.8 | 70.2 | 108.5 |
TNFα (pg/ml) | 114.0 | 245.0 | 156.2 | 174.0 |
IL-6 (pg/ml) | 104.0 | 111.0 | 66.7 | 68.0 |
VAS | 10 | 10 | 7 | 5 |
PGA | 8 | 5 | 5 | 5 |
SF-36 | 49.31 | 61.81 | 43 | 46.25 |
Treatment | ||||
IFX | 5 mg/kg every 6–8 weeks for 6 months/5 mg/kg every 12 weeks | 5 mg/kg every 8 weeks | 5 mg/kg every 6–8 weeks for 6 months/5 mg/kg every 12 weeks | 3 mg/kg every 8 weeks for 6 months/3 mg/kg every 12–16 weeks |
MTX | 15 mg weekly for 6 months/12.5 mg weekly | 10 mg weekly | 15 mg weekly for 6 months/discontinuation due to side effects | 10 mg weekly for 6 months/discontinuation due to side effects |
Prednisone | Not used | Not used | Not used | 15 mg/day tapered to 5 mg/day |