• 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

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.

作者信息

Jørgensen Sofie E, Bøttger Pernille, Kofod-Olsen Emil, Holm Mette, Mørk Nanna, Ørntoft Torben F, Sørensen Uffe B S, Bernth-Jensen Jens Magnus, Herlin Troels, Veirum Jens, Larsen Carsten S, Østergaard Lars, Hartmann Rune, Christiansen Mette, Mogensen Trine H

机构信息

Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.

International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.

出版信息

J Allergy Clin Immunol. 2016 Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29.

DOI:10.1016/j.jaci.2016.05.030
PMID:27477329
Abstract
摘要

相似文献

1
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.由IKBKG/NEMO基因分支点突变引起的外胚层发育不良伴免疫缺陷。
J Allergy Clin Immunol. 2016 Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29.
2
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).IKBKG/NEMO基因的一种新型突变导致外胚层发育不良伴严重免疫缺陷（EDA-ID）。
J Clin Immunol. 2016 Aug;36(6):541-3. doi: 10.1007/s10875-016-0309-y. Epub 2016 Jul 2.
3
[Ectodermal dysplasia with immunodeficiency caused by IKBKG frameshift mutation].[IKBKG 移码突变导致的外胚层发育不良伴免疫缺陷]
Zhonghua Er Ke Za Zhi. 2019 Aug 2;57(8):638-640. doi: 10.3760/cma.j.issn.0578-1310.2019.08.014.
4
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.IKBKG基因中的新型低表达突变损害NEMO泛素化，导致外胚层发育不良、免疫缺陷、色素失禁症和免疫性血小板减少性紫癜。
Clin Immunol. 2015 Oct;160(2):163-71. doi: 10.1016/j.clim.2015.06.007. Epub 2015 Jun 24.
5
A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.与无汗性外胚层发育不良伴免疫缺陷病理相关的NEMO中的一个点突变导致寡聚体不稳定，并降低脂多糖和肿瘤坏死因子介导的NF-κB激活。
J Biol Chem. 2006 Mar 10;281(10):6334-48. doi: 10.1074/jbc.M510118200. Epub 2005 Dec 26.
6
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.人类核因子κB必需调节因子突变可导致免疫缺陷而无外胚层发育异常。
J Allergy Clin Immunol. 2004 Sep;114(3):650-6. doi: 10.1016/j.jaci.2004.06.052.
7
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.两名女性遗传性交界性大疱性表皮松解症伴 NEMO 杂合突变患者的免疫缺陷，通过脂多糖无反应性诊断。
J Clin Immunol. 2017 Aug;37(6):529-538. doi: 10.1007/s10875-017-0417-3. Epub 2017 Jul 12.
8
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.EDA-ID 和 IP，同一枚硬币的两面：如何同一 IKBKG/NEMO 突变影响 NF-κB 通路可以导致免疫缺陷和/或炎症。
Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13.
9
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.X连锁无汗性外胚层发育不良伴免疫缺陷由NF-κB信号传导受损引起。
Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837.
10
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.无汗性外胚层发育不良与免疫缺陷：核因子κB 必需调节蛋白的作用
Arch Dis Child. 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340.

引用本文的文献

1
Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.外胚层发育不良患者的死亡、感染及体温过高风险：一项全国性研究
Acta Derm Venereol. 2025 Jun 18;105:adv43101. doi: 10.2340/actadv.v105.43101.
2
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.非偏斜性 X 染色体失活导致伴失禁型色素失禁症的 NF-κB 必需调节剂（NEMO）Δ-外显子 5-自炎症综合征（NEMO-NDAS）在女性中发生。
J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2.
3
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.
色素失禁症伴反复感染女性中的核因子κB激活与X染色体失活
J Clin Immunol. 2024 May 25;44(6):136. doi: 10.1007/s10875-024-01737-2.
4
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.基因编程的 NEMO 可变剪接介导自身炎症疾病表型。
J Clin Invest. 2022 Mar 15;132(6). doi: 10.1172/JCI128808.
5
Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.原发性免疫缺陷的最新进展：从分子诊断到治疗
F1000Res. 2020 Mar 19;9. doi: 10.12688/f1000research.21553.1. eCollection 2020.
6
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.NEMO 缺陷患者的 T 细胞功能障碍与其严重的临床病程相关。
J Clin Immunol. 2020 Apr;40(3):421-434. doi: 10.1007/s10875-019-00728-y. Epub 2020 Jan 21.
7
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.挽救依赖细胞类型的定量 NEMO 缺陷的深层内含子突变。
J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.
8
ORAI1 mutations abolishing store-operated Ca entry cause anhidrotic ectodermal dysplasia with immunodeficiency.ORAI1 基因突变导致的无汗性外胚层发育不良伴免疫缺陷会消除钙库操纵的钙内流。
J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.
9
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.奥尔波特综合征疑难病例：通过外显子组测序和功能分析鉴定出缺失的突变
PLoS One. 2017 Jun 1;12(6):e0178630. doi: 10.1371/journal.pone.0178630. eCollection 2017.
10
Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells.CD4+ T细胞中原发性免疫缺陷动力学的模拟
PLoS One. 2017 Apr 27;12(4):e0176500. doi: 10.1371/journal.pone.0176500. eCollection 2017.