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

August 2020 in “ Drug metabolism and drug interactions ”

Anup J. Devasia, Raveen Stephen Stallon Illangeswaran, Infencia Xavier Raj, Biju George, Poonkuzhali Balasubramanian

azathioprine myelosuppression hair loss oral ulcers NUDT15 415C>T variant autoimmune hemolytic anemia immune thrombocytopenia TPMT variants AZA

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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