April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.
3 citations
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August 2021 in “Clinical Case Reports” This case report describes a patient with a NUDT15 minor variant who experienced severe myelosuppression due to azathioprine, emphasizing typical symptoms as clues to the adverse reaction.
November 2024 in “Rheumatology Advances in Practice” This case report highlights the significance of alopecia totalis and knuckle pad hyperpigmentation as early indicators of azathioprine-induced myelosuppression and pancytopenia.
10 citations
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August 2020 in “Drug metabolism and drug interactions” This case series found that patients with the NUDT15 415C>T variant experienced severe azathioprine toxicity, suggesting genotype-based dosing could reduce adverse effects.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.