Severe myelosuppression and alopecia after thiopurine initiation in a patient with <i>NUDT15</i> deficiency

Thiopurines are a class of immunosuppressant and antineoplastic agents. They are widely used in the treatment of inflammatory bowel disease, haematological 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 10-fold 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.

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Publication Details

Journal
British Journal of Clinical Pharmacology
Published
2025-03-18
DOI
https://doi.org/10.1002/bcp.70047
Citations
1
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
Field-Weighted Citation Impact
1.88
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article

Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency

Richard B. Kim, Annie Siyu Wu, Jonathan S. Zipursky, Lee Mozessohn
1 citations
British Journal of Clinical Pharmacology
Acute Lymphoblastic Leukemia research
1.88
article

Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency

Richard B. Kim, Annie Siyu Wu, Jonathan S. Zipursky, Lee Mozessohn
article en
1 citations

Abstract

Thiopurines are a class of immunosuppressant and antineoplastic agents. They are widely used in the treatment of inflammatory bowel disease, haematological 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 10-fold 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.

British Journal of Clinical PharmacologyVol. 91(5)
Western University (CA), Sunnybrook Health Science Centre (CA), University of Toronto (CA), London Health Sciences Centre (CA), Health Sciences Centre (CA), Sunnybrook Hospital (CA), Sunnybrook Research Institute
Good health and well-being
Openalex Percentile: Top 18%
Acute Lymphoblastic Leukemia research
1.88
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