NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series

    Anup J. Devasia, Raveen Stephen Stallon Illangeswaran, Infencia Xavier Raj, Biju George, Poonkuzhali Balasubramanian
    TLDR The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
    The document reported a case series of five Indian patients who experienced severe toxicity (myelosuppression, hair loss, and oral ulcers) while being treated with azathioprine (AZA) for autoimmune hemolytic anemia (n=1) and immune thrombocytopenia (n=4). These patients did not have common TPMT variants but all had the NUDT15 415C>T variant, which has been linked to serious toxicity in Asian patients. The findings suggested that pre-emptive genotype-based dosing of AZA could mitigate adverse effects and improve patient outcomes.
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