Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review

    May 2023 in “ Frontiers in Pharmacology
    Juan Gu, Yupei Lin, Yuhe Wang
    TLDR Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
    This case report describes a young Chinese female with systemic lupus erythematosus who suffered severe azathioprine-induced myelosuppression and alopecia due to the NUDT15 c.415C>T homozygous variant. The patient experienced a significant drop in white blood cell count and required intensive care. The report emphasizes the necessity of genotyping for NUDT15 and TPMT variants before starting azathioprine therapy to avoid severe adverse reactions. A literature review of 67 articles supports the need for genetic testing and routine blood monitoring to manage azathioprine-induced myelosuppression effectively.
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