From: Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients
Patients | 1 | 2 | 3 | References |
---|---|---|---|---|
Gender | Male | Male | Male | |
Ethnicity | Han | Han | Han | |
Age at diagnosis (years) | 1.5 | 6.8 | 1.7 | |
Age at onset (years) | 0.8 | 0.6 | 0.5 | |
Family history | + | + | - | |
Clinical features | ||||
Joint | + | + | + | |
Skin | - | - | + | |
Eye | - | - | - | |
Fever | - | - | - | |
NOD2 variants | R334Q | R334Q | p.M513K | |
Laboratory findings | ||||
WBC (109/L) | 13.8 | 7.5 | 59.6 | 5-12 |
CRP (mg/L) | 7.6 | 6.2 | 35.5 | ≤8.2 |
ESR (mm/h) | 28 | 32 | 17 | 0-15 |
IL-2 (pg/ml) | 0.28 | 0.69 | 125.74 | 0-5.03 |
IL-4 (pg/ml) | 0.39 | 0.69 | 3.26 | 0-4.62 |
IL-6 (pg/ml) | 1.96 | 0.69 | 125.49 | 0-8.88 |
IL-10 (pg/ml) | 0.79 | 0.69 | 7.42 | 0-8.14 |
TNF-α (pg/ml) | 99.47 | 0.69 | 9.52 | 0-5.35 |
IFN-γ (pg/ml) | 2.73 | 0.69 | 7.99 | 0-6.56 |
IL-1ß (pg/ml) | 0.55 | 0-3.12 |