Case Report: Blau Syndrome With Thrombocytopenia

Di Pan1, Xiaoling Dai2, Pan Li3

  • 1Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Summary

Blau syndrome, a rare genetic condition, was diagnosed in a 22-year-old female after initial misdiagnosis. Genetic testing identified a NOD2 gene mutation, clarifying the diagnosis and informing understanding of this rare disease.

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