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Thalidomide may be an effective medicine for Blau Syndrome

Wei Wang, Wei Wang, Linqing Zhong, Wendao Li, Shijing Wu, Hongmei Song

nucleotide-binding domain region of the NOD2/CARD15 gene. We reported the case of a patient with a typical triad of rash, arthritis, and uveitis. Sanger sequencing indicated a NOD2 missense variant (c.1759 C >T, p.R587C) in the patient that was inherited from the mother. After treatment with methotrexate, a TNF-α inhibitor, and corticosteroids, the patient’s clinical symptoms and inflammatory indicators remained uncontrolled. In the meantime, the patient experienced multiple side effects, such as hypertension and growth retardation attributed to prolonged use of corticosteroids. After treatment with thalidomide, the condition was controlled without recurrence or side effects, and corticosteroids were stopped as soon as possible. This report suggests that thalidomide may be an effective drug for BS treatment.