• 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

高IgD综合征/甲羟戊酸激酶缺乏症：有哪些新进展？

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

作者信息

Mulders-Manders C M, Simon A

机构信息

Department of Internal Medicine, Nijmegen Centre for Immunodeficiency and Autoinflammation (NCIA), Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Semin Immunopathol. 2015 Jul;37(4):371-6. doi: 10.1007/s00281-015-0492-6. Epub 2015 May 20.

DOI:10.1007/s00281-015-0492-6
PMID:25990874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4491100/
Abstract

Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

摘要

甲羟戊酸激酶缺乏症或高IgD综合征是一种由甲羟戊酸激酶基因突变引起的遗传性自身炎症综合征。在本综述中，我们将讨论过去两年发表的关于该疾病的新发现。这包括对病理生理学、治疗以及与基因缺陷相关的临床表型的新见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd31/4491100/188a7c19d18e/281_2015_492_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd31/4491100/188a7c19d18e/281_2015_492_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd31/4491100/188a7c19d18e/281_2015_492_Fig1_HTML.jpg

相似文献

1
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?高IgD综合征/甲羟戊酸激酶缺乏症：有哪些新进展？
Semin Immunopathol. 2015 Jul;37(4):371-6. doi: 10.1007/s00281-015-0492-6. Epub 2015 May 20.
2
Hyper-IgD syndrome or mevalonate kinase deficiency.高免疫球蛋白 D 综合征或甲羟戊酸激酶缺乏症。
Curr Opin Rheumatol. 2011 Sep;23(5):419-23. doi: 10.1097/BOR.0b013e328349c3b1.
3
[Mevalonate kinase deficiency in 2016].[2016年的甲羟戊酸激酶缺乏症]
Rev Med Interne. 2018 Apr;39(4):265-270. doi: 10.1016/j.revmed.2016.08.019. Epub 2016 Sep 19.
4
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.甲羟戊酸激酶缺乏症的围产期表现及阿那白滞素的疗效
Pediatr Rheumatol Online J. 2016 Mar 25;14(1):19. doi: 10.1186/s12969-016-0081-9.
5
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.甲羟戊酸激酶缺乏症中的蛋白异戊烯化受损作为致病机制。
Front Immunol. 2021 Sep 3;12:724991. doi: 10.3389/fimmu.2021.724991. eCollection 2021.
6
Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.一名无发热婴儿患伴有新突变的高免疫球蛋白D综合征。
Pediatr Dermatol. 2018 Jul;35(4):482-485. doi: 10.1111/pde.13488. Epub 2018 Mar 30.
7
Current advances in the understanding and treatment of mevalonate kinase deficiency.甲羟戊酸激酶缺乏症的认识与治疗的当前进展
Int J Immunopathol Pharmacol. 2014 Oct-Dec;27(4):491-8. doi: 10.1177/039463201402700404.
8
Hyper-IgD syndrome in a patient with IgA immunodeficiency.一名患有IgA免疫缺陷的患者的高IgD综合征。
Clin Exp Rheumatol. 2018 Sep-Oct;36(5):934. Epub 2018 Jul 19.
9
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.血清免疫球蛋白D水平在临床怀疑高IgD综合征患者中的诊断价值
Rheumatology (Oxford). 2007 Oct;46(10):1597-600. doi: 10.1093/rheumatology/kem200. Epub 2007 Sep 5.
10
[A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis].一名6岁女孩，诊断为甲羟戊酸激酶缺乏症，曾患胎儿水肿和新生儿期胆汁淤积症
Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(2):131-137. doi: 10.2177/jsci.40.131.

引用本文的文献

1
[Genetic diagnostics in fever syndromes].[发热综合征的基因诊断]
Z Rheumatol. 2025 Aug;84(6):462-470. doi: 10.1007/s00393-025-01674-4. Epub 2025 Jul 1.
2
Pediatric Systemic Autoinflammatory Disorders: An Overview.小儿系统性自身炎症性疾病概述
Curr Allergy Asthma Rep. 2025 Apr 29;25(1):23. doi: 10.1007/s11882-025-01203-y.
3
Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.复杂的 MEFV 和 MVK 变异在叙利亚儿童中的表现：对临床表型和治疗反应的影响-一例报告。

本文引用的文献

1
11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.患有周期性发热、复发性肝功能障碍和穿孔素基因多态性的11个月大婴儿。
Arthritis Care Res (Hoboken). 2015 Aug;67(8):1173-9. doi: 10.1002/acr.22527.
2
Long-term efficacy of adalimumab in hyperimmunoglobulin D and periodic fever syndrome.阿达木单抗治疗高免疫球蛋白D血症和周期性发热综合征的长期疗效。
Isr Med Assoc J. 2014 Oct;16(10):605-7.
3
TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome.
J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241291929. doi: 10.1177/23247096241291929.
4
Oral Diseases as a Manifestation of Inborn Errors of Immunity.作为先天性免疫缺陷表现的口腔疾病
J Clin Med. 2024 Aug 27;13(17):5079. doi: 10.3390/jcm13175079.
5
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.自身炎症性角化病——概念、病理生理学及临床意义
Clin Rev Allergy Immunol. 2023 Dec;65(3):377-402. doi: 10.1007/s12016-023-08971-3. Epub 2023 Dec 16.
6
Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency.阿那白滞素治疗两名患有甲羟戊酸激酶缺乏症的摩洛哥患者的疗效。
Glob Pediatr Health. 2023 Oct 26;10:2333794X231207351. doi: 10.1177/2333794X231207351. eCollection 2023.
7
What General Neurologists Should Know about Autoinflammatory Syndromes?普通神经科医生应该了解哪些关于自身炎症性综合征的知识？
Brain Sci. 2023 Sep 21;13(9):1351. doi: 10.3390/brainsci13091351.
8
Increase in pediatric recurrent fever evaluations during the first year of the COVID-19 pandemic in North America.北美新冠疫情第一年儿科反复发热评估量增加。
Front Pediatr. 2023 Aug 3;11:1240242. doi: 10.3389/fped.2023.1240242. eCollection 2023.
9
Functional Hallmarks of Healthy Macrophage Responses: Their Regulatory Basis and Disease Relevance.健康巨噬细胞反应的功能特征：其调控基础和疾病相关性。
Annu Rev Immunol. 2022 Apr 26;40:295-321. doi: 10.1146/annurev-immunol-101320-031555.
10
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.甲羟戊酸激酶缺乏症对秋水仙碱治疗的非典型表现。
Mol Syndromol. 2022 Feb;13(2):146-151. doi: 10.1159/000518825. Epub 2021 Oct 25.
高免疫球蛋白 D 伴发热周期性综合征中 TLR2/TLR4 依赖性细胞因子过度产生。
Rheumatology (Oxford). 2015 Feb;54(2):363-8. doi: 10.1093/rheumatology/keu341. Epub 2014 Aug 29.
4
Unprenylated RhoA contributes to IL-1β hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity.未异戊二烯化的RhoA通过刺激Rac1活性，在甲羟戊酸激酶缺乏模型中导致白细胞介素-1β分泌过多。
J Biol Chem. 2014 Oct 3;289(40):27757-65. doi: 10.1074/jbc.M114.571810. Epub 2014 Aug 8.
5
A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.一个患有播散性浅表性光化性汗孔角化症的中国家系中的一种新型MVK错义突变。
Mol Biol Rep. 2014 Nov;41(11):7229-33. doi: 10.1007/s11033-014-3609-4. Epub 2014 Jul 25.
6
A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.MVK基因中一种导致播散性浅表光化性汗孔角化症的新突变。
Br J Dermatol. 2014 Aug;171(2):427-9. doi: 10.1111/bjd.12947. Epub 2014 Jul 23.
7
Quantification of urinary mevalonic acid as a biomarker of HMG-CoA reductase activity by a novel translational LC-MS/MS method.采用新型转化型液相色谱-串联质谱法对尿中甲羟戊酸进行定量分析，作为HMG-CoA还原酶活性的生物标志物。
Bioanalysis. 2014 Apr;6(7):919-33. doi: 10.4155/bio.13.350.
8
Splicing mutation in MVK is a cause of porokeratosis of Mibelli.甲羟戊酸激酶（MVK）的剪接突变是米贝利汗孔角化症的病因之一。
Arch Dermatol Res. 2014 Oct;306(8):749-55. doi: 10.1007/s00403-014-1465-7. Epub 2014 Apr 30.
9
Block of the mevalonate pathway triggers oxidative and inflammatory molecular mechanisms modulated by exogenous isoprenoid compounds.甲羟戊酸途径阻断会触发氧化和炎症的分子机制，这些机制受外源性异戊烯化合物的调节。
Int J Mol Sci. 2014 Apr 22;15(4):6843-56. doi: 10.3390/ijms15046843.
10
Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.新生儿肝炎作为高免疫球蛋白D综合征的首发表现。
Case Rep Pediatr. 2014;2014:936890. doi: 10.1155/2014/936890. Epub 2014 Mar 3.