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

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...

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Autores principales: Tomiyoshi, Kei, Sato, Hiroki, Tominaga, Kentaro, Kawata, Yuzo, Okamoto, Daisuke, Kakuta, Yoichi, Yokoyama, Junji, Terai, Shuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402964/
https://www.ncbi.nlm.nih.gov/pubmed/32269192
http://dx.doi.org/10.2169/internalmedicine.4261-19
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author Tomiyoshi, Kei
Sato, Hiroki
Tominaga, Kentaro
Kawata, Yuzo
Okamoto, Daisuke
Kakuta, Yoichi
Yokoyama, Junji
Terai, Shuji
author_facet Tomiyoshi, Kei
Sato, Hiroki
Tominaga, Kentaro
Kawata, Yuzo
Okamoto, Daisuke
Kakuta, Yoichi
Yokoyama, Junji
Terai, Shuji
author_sort Tomiyoshi, Kei
collection PubMed
description 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.
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spelling pubmed-74029642020-08-19 Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis Tomiyoshi, Kei Sato, Hiroki Tominaga, Kentaro Kawata, Yuzo Okamoto, Daisuke Kakuta, Yoichi Yokoyama, Junji Terai, Shuji Intern Med Case Report 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. The Japanese Society of Internal Medicine 2020-04-09 2020-07-01 /pmc/articles/PMC7402964/ /pubmed/32269192 http://dx.doi.org/10.2169/internalmedicine.4261-19 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Tomiyoshi, Kei
Sato, Hiroki
Tominaga, Kentaro
Kawata, Yuzo
Okamoto, Daisuke
Kakuta, Yoichi
Yokoyama, Junji
Terai, Shuji
Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title_full Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title_fullStr Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title_full_unstemmed Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title_short Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis
title_sort rare genotype of his/his in nudt15 codon 139 and thiopurine-associated adverse events in a case of ulcerative colitis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402964/
https://www.ncbi.nlm.nih.gov/pubmed/32269192
http://dx.doi.org/10.2169/internalmedicine.4261-19
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