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Severe myelosuppression and alopecia with thiopurine initiation and NUDT15 deficiency
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  • Annie Wu,
  • Lee Mozessohn,
  • Richard Kim,
  • Jonathan S. Zipursky
Annie Wu
University of Toronto Faculty of Medicine
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Lee Mozessohn
University of Toronto
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Richard Kim
University of Western Ontario
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Jonathan S. Zipursky
Sunnybrook Health Sciences Centre

Corresponding Author:jonathan.zipursky@sunnybrook.ca

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Abstract

Thiopurines are a class of immunosuppressant and anti-neoplastic agents. They are widely used in the treatment of inflammatory bowel disease, hematological malignancies, and autoimmune diseases, but can cause significant toxicity. Inherited gene mutations are now recognized as independent risk factors for severe adverse drug reactions to thiopurines even at tenfold dose reductions. We present a case of thiopurine toxicity resulting in severe myelosuppression, hepatotoxicity, and alopecia in an individual with homozygous *3/*3 loss-of-function alleles in the NUDT15 gene. Our case highlights important differences in gene mutation frequencies between races that can help guide pharmacogenomic testing.
20 Nov 2024Submitted to British Journal of Clinical Pharmacology
21 Nov 2024Submission Checks Completed
21 Nov 2024Assigned to Editor
21 Nov 2024Review(s) Completed, Editorial Evaluation Pending
27 Nov 2024Reviewer(s) Assigned