• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Autoimmune Polyendocrine Syndromes.

作者信息

Husebye Eystein S, Anderson Mark S, Kämpe Olle

机构信息

From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).

出版信息

N Engl J Med. 2018 Mar 22;378(12):1132-1141. doi: 10.1056/NEJMra1713301.

DOI:10.1056/NEJMra1713301
PMID:29562162
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6007870/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/428e8d84110d/nihms972722f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/6bc708c8d511/nihms972722f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/34c1ae4047c1/nihms972722f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/428e8d84110d/nihms972722f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/6bc708c8d511/nihms972722f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/34c1ae4047c1/nihms972722f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb2c/6007870/428e8d84110d/nihms972722f3.jpg

相似文献

1
Autoimmune Polyendocrine Syndromes.自身免疫性多内分泌综合征
N Engl J Med. 2018 Mar 22;378(12):1132-1141. doi: 10.1056/NEJMra1713301.
2
A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.一项具有挑战性的工作：针对免疫失调、多内分泌腺病、肠病、X连锁（IPEX）综合征的干细胞移植。
J Allergy Clin Immunol. 2016 Mar;137(3):953-5.e4. doi: 10.1016/j.jaci.2015.09.030. Epub 2015 Nov 11.
3
[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes].[一例免疫失调、多内分泌腺病、肠病、X连锁综合征合并极早期炎症性肠病样改变]
Zhonghua Er Ke Za Zhi. 2019 Jul 2;57(7):559-561. doi: 10.3760/cma.j.issn.0578-1310.2019.07.013.
4
Anti-voltage-Gated Potassium Channel (VGKC) Antibodies and Acquired Neuromyotonia in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Lined (IPEX) Syndrome.抗电压门控钾通道（VGKC）抗体与免疫失调、多内分泌腺病、肠病伴X连锁（IPEX）综合征患者的获得性神经性肌强直
J Clin Immunol. 2021 Nov;41(8):1972-1974. doi: 10.1007/s10875-021-01128-x. Epub 2021 Sep 3.
5
Nonclassic Inflammatory Bowel Disease in Young Infants: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome, and Other Disorders.婴幼儿非典型炎症性肠病：免疫失调、多内分泌腺病、肠病、X连锁综合征及其他疾病
Pediatr Clin North Am. 2017 Feb;64(1):139-160. doi: 10.1016/j.pcl.2016.08.010.
6
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome.慢病毒基因治疗造血干细胞中恢复谱系特异性 Foxp3 表达并抑制 IPEX 综合征小鼠模型中的自身免疫。
Cell Stem Cell. 2019 Feb 7;24(2):309-317.e7. doi: 10.1016/j.stem.2018.12.003. Epub 2019 Jan 10.
7
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.从 IPEX 综合征到 FOXP3 突变：免疫失调的教训。
Ann N Y Acad Sci. 2018 Apr;1417(1):5-22. doi: 10.1111/nyas.13011. Epub 2016 Feb 25.
8
T cell gene therapy to treat immunodeficiency.T 细胞基因疗法治疗免疫缺陷。
Br J Haematol. 2021 Feb;192(3):433-443. doi: 10.1111/bjh.17070. Epub 2020 Sep 10.
9
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.由FOXP3基因外显子小缺失导致的极早发型免疫失调、多内分泌腺病、肠病、X连锁综合征（IPEX）
J Pediatr Gastroenterol Nutr. 2016 Nov;63(5):e119-e120. doi: 10.1097/MPG.0000000000000554.
10
Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome.IPEX 综合征患者存在低丙种球蛋白血症、类别转换 B 细胞减少和滤泡辅助 T 细胞失调。
Clin Immunol. 2018 Dec;197:219-223. doi: 10.1016/j.clim.2018.10.005. Epub 2018 Oct 24.

引用本文的文献

1
Anti-GABAB receptor encephalitis combined with autoimmune polyendocrine gland syndrome.抗GABAB受体脑炎合并自身免疫性多内分泌腺综合征。
Neurol Sci. 2025 Aug 19. doi: 10.1007/s10072-025-08433-y.
2
Understanding Sex Differences in Autoimmune Diseases: Immunologic Mechanisms.了解自身免疫性疾病中的性别差异：免疫机制。
Int J Mol Sci. 2025 Jul 23;26(15):7101. doi: 10.3390/ijms26157101.
3
A Case of Autoimmune Polyglandular Syndrome Type 2 in Childhood: Unraveling a Rare and Complex Endocrine Puzzle.一例儿童自身免疫性多内分泌腺综合征2型：解开一个罕见且复杂的内分泌谜团。

本文引用的文献

1
Immune-Related Adverse Events Associated with Immune Checkpoint Blockade.与免疫检查点阻断相关的免疫相关不良事件。
N Engl J Med. 2018 Jan 11;378(2):158-168. doi: 10.1056/NEJMra1703481.
2
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.IPEX 综合征患者接受不同治疗策略后的长期随访：一项国际多中心回顾性研究。
J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.
3
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
Cureus. 2025 Jul 9;17(7):e87595. doi: 10.7759/cureus.87595. eCollection 2025 Jul.
4
Immune cell subsets in autoimmune polyendocrine syndrome type I.I型自身免疫性多内分泌腺综合征中的免疫细胞亚群。
Sci Rep. 2025 Aug 4;15(1):28398. doi: 10.1038/s41598-025-12634-y.
5
Clinical and serological characteristics of type 3 APS, isolated T1DM and LADY/LADA.3型抗磷脂综合征（APS）、孤立性1型糖尿病及成人隐匿性自身免疫性糖尿病（LADY/LADA）的临床和血清学特征
BMC Endocr Disord. 2025 Jul 1;25(1):155. doi: 10.1186/s12902-025-01969-2.
6
Autoimmune Polyglandular Syndrome Type 2 Presentation with Alopecia Universalis, Hashimoto's Disease, and Addison's Disease.2型自身免疫性多腺体综合征伴发全秃、桥本氏病和艾迪生病。
Int Med Case Rep J. 2025 Jun 17;18:719-725. doi: 10.2147/IMCRJ.S515059. eCollection 2025.
7
Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review.肾上腺功能不全相关心肌病：从分子到临床的全面综述
Health Sci Rep. 2025 May 27;8(5):e70702. doi: 10.1002/hsr2.70702. eCollection 2025 May.
8
Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review.伴有肾上腺危象的2型全三联自身免疫性多内分泌综合征延迟诊断：一例报告及文献综述
Front Immunol. 2025 May 9;16:1563629. doi: 10.3389/fimmu.2025.1563629. eCollection 2025.
9
An Extremely Rare Case of Immune Checkpoint Inhibitors-Related Hypoparathyroidism and a Critical Literature Review.免疫检查点抑制剂相关甲状旁腺功能减退症的一例极其罕见病例及文献综述
JCEM Case Rep. 2025 May 12;3(6):luaf097. doi: 10.1210/jcemcr/luaf097. eCollection 2025 Jun.
10
Diverse clinical manifestations and management strategies in autoimmune polyglandular syndrome: a review of cases.自身免疫性多腺体综合征的多样临床表现及管理策略：病例综述
Ann Med Surg (Lond). 2025 Mar 28;87(5):2774-2783. doi: 10.1097/MS9.0000000000003207. eCollection 2025 May.
自身免疫调节因子 (AIRE) 的 SAND 结构域中存在第二种更常见的变异，导致显性负性功能丧失。
J Autoimmun. 2018 Mar;88:114-120. doi: 10.1016/j.jaut.2017.10.010. Epub 2017 Nov 10.
4
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.扩大 1 型自身免疫性多内分泌腺综合征的表型和基因型谱。
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3546-3556. doi: 10.1210/jc.2017-00139.
5
Identification of Natural Regulatory T Cell Epitopes Reveals Convergence on a Dominant Autoantigen.天然调节性T细胞表位的鉴定揭示了在一种主要自身抗原上的趋同现象。
Immunity. 2017 Jul 18;47(1):107-117.e8. doi: 10.1016/j.immuni.2017.06.015. Epub 2017 Jul 11.
6
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.儿童多关节炎作为自身免疫性多内分泌腺病合并念珠菌病和外胚层营养不良综合征的早期表现
Front Immunol. 2017 Apr 18;8:377. doi: 10.3389/fimmu.2017.00377. eCollection 2017.
7
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.外显子组测序揭示AIRE基因的突变是孤立性甲状旁腺功能减退症的病因。
J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836.
8
Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study.自身免疫性艾迪生病的临床和免疫学特征：一项瑞典全国性多中心研究
J Clin Endocrinol Metab. 2017 Feb 1;102(2):379-389. doi: 10.1210/jc.2016-2522.
9
Hyponatraemia secondary to nivolumab-induced primary adrenal failure.纳武单抗诱导的原发性肾上腺功能衰竭继发低钠血症。
Endocrinol Diabetes Metab Case Rep. 2016;2016. doi: 10.1530/EDM-16-0108. Epub 2016 Nov 1.
10
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.外显子组扩展测序确定 BACH2 是艾迪生病的一个新的主要风险位点。
J Intern Med. 2016 Dec;280(6):595-608. doi: 10.1111/joim.12569. Epub 2016 Nov 2.