Diagnostics challenges and therapeutic response in Blau syndrome – case report
نویسندگان
چکیده
Introduction Blau’s syndrome is an autosomal-dominant, autoinflammatory disease characterized by a non caseous granulomatous inflammation,presenting with arthritis, dermatitis and uveitis, caused by mutations of the CARD15/NOD2. Patients are treated with high doses of oral corticosteroids, and if the therapeutic response is unsatisfactory,additional treatment with immunosuppressive agents is the best choice,such as: Methotrexate,Cyclosporine,Anti-TNF and Canakinumab (Anti-IL1).
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Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
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