Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis

Intern Med. 2020 Jul 1;59(13):1611-1613. doi: 10.2169/internalmedicine.4261-19. Epub 2020 Apr 9.

Abstract

Thiopurine drugs are commonly used to treat immunologic diseases. However, the narrow therapeutic safety margin demands evidence-based precision medicine approaches. NUDT15 variants are associated with thiopurine-induced adverse events, particularly in Asians. We herein report a rare genotype of His/His in NUDT15 codon 139 in a case of ulcerative colitis and review the relevant literature. The patient experienced severe thiopurine-associated adverse events, including leukopenia and alopecia. There is no literature on the His/His genotype in NUDT15 codon 139, and our case suggests cautious use or the contraindication of thiopurines for patients with this genotype.

Keywords: His/His genotype; NUDT15; inflammatory bowel disease; leukopenia; thiopurine; ulcerative colitis.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / chemically induced
  • Asian People / genetics
  • Azathioprine / adverse effects*
  • Azathioprine / pharmacokinetics
  • Azathioprine / therapeutic use
  • Codon
  • Colitis, Ulcerative / drug therapy*
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Leukopenia / chemically induced
  • Pyrophosphatases / genetics*
  • Risk Factors

Substances

  • Codon
  • NUDT15 protein, human
  • Pyrophosphatases
  • Azathioprine