Autoinflammatory & rare systemic diseases
Effective Treatment of Janus Kinase 1/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China
Authors' conclusion
TOF could be an effective therapeutic option for patients with BS who demonstrate resistance to TNFi or corticosteroids. Specifically, the STAT3 rs2293152 GG polymorphism was associated with improved response to treatment, suggesting a genotype-influenced therapeutic efficacy.
Study context
- Population
- Patients with Blau syndrome, 7 centres in Central China2 oligoarticular, 22 polyarticular
- Exposure
- JAK1/3i tofacitinib in Blau syndrome; therapeutic response by clinical and genetic features
- Outcome
- Effectiveness of the JAK1/3i tofacitinib in treating Blau syndrome
Methodological detailsmulticentre (7 centres), observational, 5-year, genetic analysis (whole-exome sequencing; NOD2 and STAT3 rs2293152 phenotypic comparisons)
- Multicentre (7 centres)
- Observational
- 5-year
- Genetic analysis (whole-exome sequencing; NOD2 and STAT3 rs2293152 phenotypic comparisons)
Main finding
As reported in the abstract
Therapeutic response by genotype
- STAT3 rs2293152 GG polymorphism: favorable responses to treatment, whether JAK1/3i or tumor necrosis factor inhibitors (TNFi) used
- No association between different NOD2 sequences and therapy response
Observational data: associations, not effects.
Further findings
Arthritis pattern
- All patients had arthritis; oligoarticular
- 2
- Polyarticular
- 22
- Joints mainly affected: wrists, proximal interphalangeal joints, ankles, knees
Radiographic symmetrical nonerosive arthropathy
- Proportion of patients
- 92.3%
Previously unrecognized dysplastic bone changes
- Proportion of cohort
- two-thirds
Ocular involvement
- Observed in all patients
Original publication
Effective Treatment of Janus Kinase 1/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China. J Rheumatol. Published 15 April 2025. doi:10.
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