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Novel multiple heterozygous NUDT15 variants cause an azathioprine-induced severe leukopenia in a patient with systemic lupus erythematosus.

作者信息

Otsuka Mizuna, Koga Tomohiro, Sumiyoshi Remi, Furukawa Kaori, Okamoto Momoko, Endo Yushiro, Tsuji Sosuke, Takatani Ayuko, Shimizu Toshimasa, Igawa Takashi, Kawashiri Shin-Ya, Iwamoto Naoki, Ichinose Kunihiro, Tamai Mami, Nakamura Hideki, Origuchi Tomoki, Kawakami Atsushi

机构信息

Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Japan.

Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Japan; Center for Bioinformatics and Molecular Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

出版信息

Clin Immunol. 2019 Mar;200:64-65. doi: 10.1016/j.clim.2019.02.004. Epub 2019 Feb 8.

DOI:10.1016/j.clim.2019.02.004
PMID:30742971
Abstract
摘要

相似文献

1
Novel multiple heterozygous NUDT15 variants cause an azathioprine-induced severe leukopenia in a patient with systemic lupus erythematosus.新型多重杂合NUDT15变体在一名系统性红斑狼疮患者中导致硫唑嘌呤诱发的严重白细胞减少症。
Clin Immunol. 2019 Mar;200:64-65. doi: 10.1016/j.clim.2019.02.004. Epub 2019 Feb 8.
2
Azathioprine-induced alopecia and leukopenia associated with NUDT15 polymorphisms.硫唑嘌呤诱导的脱发和白细胞减少症与NUDT15基因多态性相关。
J Eur Acad Dermatol Venereol. 2018 Oct;32(10):e386-e389. doi: 10.1111/jdv.15028. Epub 2018 Jul 17.
3
NUDT15 variant is the most common variant associated with thiopurine-induced early leukopenia and alopecia in Korean pediatric patients with Crohn's disease.NUDT15基因变异是韩国克罗恩病儿科患者中与硫嘌呤诱导的早期白细胞减少症和脱发相关的最常见变异。
Eur J Gastroenterol Hepatol. 2016 Apr;28(4):475-8. doi: 10.1097/MEG.0000000000000564.
4
Combined Detection of NUDT15 Variants Could Highly Predict Thiopurine-induced Leukopenia in Chinese Patients with Inflammatory Bowel Disease: A Multicenter Analysis.联合检测 NUDT15 变异可高度预测中国炎症性肠病患者硫嘌呤诱导的白细胞减少症：一项多中心分析。
Inflamm Bowel Dis. 2017 Sep;23(9):1592-1599. doi: 10.1097/MIB.0000000000001148.
5
NUDT15 p.R139C variant is common and strongly associated with azathioprine-induced early leukopenia and severe alopecia in Korean patients with various neurological diseases.NUDT15 p.R139C变异在韩国患有各种神经系统疾病的患者中很常见，并且与硫唑嘌呤诱导的早期白细胞减少和严重脱发密切相关。
J Neurol Sci. 2017 Jul 15;378:64-68. doi: 10.1016/j.jns.2017.04.041. Epub 2017 Apr 26.
6
Severe thiopurine-induced leukocytopenia and hair loss in Japanese patients with defective NUDT15 variant: Retrospective case-control study.日本缺陷 NUDT15 变异型患者中严重的硫嘌呤诱导的白细胞减少和脱发：回顾性病例对照研究。
J Dermatol. 2018 Oct;45(10):1160-1165. doi: 10.1111/1346-8138.14588. Epub 2018 Aug 13.
7
and Genetic Polymorphisms Are Related to Azathioprine Intolerance in Chinese Patients with Rheumatic Diseases.并且基因多态性与中国风湿性疾病患者对硫唑嘌呤不耐受有关。
Genet Test Mol Biomarkers. 2019 Oct;23(10):751-757. doi: 10.1089/gtmb.2018.0313. Epub 2019 Sep 26.
8
NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.NUDT15 密码子 139 是预测日本炎症性肠病患者巯嘌呤诱导的严重不良事件的最佳药物遗传学标志物：一项多中心研究。
J Gastroenterol. 2018 Sep;53(9):1065-1078. doi: 10.1007/s00535-018-1486-7. Epub 2018 Jun 19.
9
Long-term effect of NUDT15 R139C on hematologic indices in inflammatory bowel disease patients treated with thiopurine.NUDT15 R139C 对接受巯嘌呤治疗的炎症性肠病患者血液学指标的长期影响。
J Gastroenterol Hepatol. 2019 Oct;34(10):1751-1757. doi: 10.1111/jgh.14693. Epub 2019 Jun 26.
10
Implementation of NUDT15 Genotyping to Prevent Azathioprine-Induced Leukopenia for Patients With Autoimmune Disorders in Chinese Population.在中国人群中实施 NUDT15 基因分型以预防免疫性疾病患者使用巯嘌呤所致白细胞减少症。
Clin Pharmacol Ther. 2022 Nov;112(5):1079-1087. doi: 10.1002/cpt.2716. Epub 2022 Aug 22.

引用本文的文献

1
Case report: polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review.病例报告：一名患有系统性红斑狼疮的年轻中国女性中硫唑嘌呤诱导的多态性和严重骨髓抑制：病例分析与文献综述
Front Pharmacol. 2023 May 9;14:1001559. doi: 10.3389/fphar.2023.1001559. eCollection 2023.
2
LncRNA TUG1 relieves renal mesangial cell injury by modulating the miR-153-3p/Bcl-2 axis in lupus nephritis.长链非编码 RNA TUG1 通过调节狼疮肾炎中 miR-153-3p/Bcl-2 轴缓解肾系膜细胞损伤。
Immun Inflamm Dis. 2023 Apr;11(4):e811. doi: 10.1002/iid3.811.