Tofacitinib: If a patient does not respond well to DMARDs treatment, then Tofacitinib or TNFi treatment may be used instead.
Study summary
To investigate the effectiveness of the JAK 1/3 inhibitor tofacitinib in treating Blau syndrome and explore the association between various clinical and genetic features and therapeutic responses within the cohort.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
1. The patient must conform to the characteristic triad of granulomatous arthritis, uveitis, and dermatitis, or the characteristic non-caseous granuloma of BS indicated by skin or synovial biopsy;
2. Whole exon detection indicated characteristic mutations of NOD2 gene
Exclusion Criteria:
1. Patients with autoimmune diseases, including but not limited to lupus erythematosus, Sjogren's syndrome, vasculitis, ankylosing spondylitis, myositis, dermatomyositis, rheumatoid arthritis, etc.;
2. combined with other neoplastic diseases, such as lymphoma, leukemia, etc.
Primary outcome measure(s)
clinical responses — through study completion, an average of 1 year Inefficacy,Partial response, Good response,Clinical remission
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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