Severe myelosuppression and alopecia with thiopurine initiation and
NUDT15 deficiency
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.