IKBA S32突变是伴有免疫缺陷和严重非感染性全身炎症的外胚层发育不良的潜在病因。 - Suppr

IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

作者信息

Moriya Kunihiko, Sasahara Yoji, Ohnishi Hidenori, Kawai Tomoki, Kanegane Hirokazu

机构信息

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

出版信息

J Clin Immunol. 2018 Jul;38(5):543-545. doi: 10.1007/s10875-018-0522-y. Epub 2018 Jun 14.

DOI:10.1007/s10875-018-0522-y

PMID:29948576

Abstract

摘要

相似文献

IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.IKBA S32突变是伴有免疫缺陷和严重非感染性全身炎症的外胚层发育不良的潜在病因。

J Clin Immunol. 2018 Jul;38(5):543-545. doi: 10.1007/s10875-018-0522-y. Epub 2018 Jun 14.

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.常染色体显性遗传无汗性外胚层发育不良伴免疫缺陷症，由新型 NFKBIA 突变，p.Ser36Tyr 引起，表现为轻度外胚层发育不良和非传染性全身炎症。

J Clin Immunol. 2013 Oct;33(7):1165-74. doi: 10.1007/s10875-013-9924-z. Epub 2013 Jul 18.

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.

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.一种检测常染色体显性外胚层发育不良伴免疫缺陷综合征的快速筛查方法。

J Allergy Clin Immunol. 2012 Feb;129(2):578-80. doi: 10.1016/j.jaci.2011.09.042. Epub 2011 Nov 10.

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.

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.一种超显性IκBα突变与常染色体显性无汗性外胚层发育不良和T细胞免疫缺陷相关。

J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714.

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.NFKBIA/IKBA基因中的一种新突变导致一种抗降解的N端截短蛋白，并与伴有免疫缺陷的外胚层发育不良相关。

Hum Mutat. 2008 Jun;29(6):861-8. doi: 10.1002/humu.20740.

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.无汗性外胚层发育不良伴免疫缺陷的诊断与治疗。

Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446.

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.

[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.

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Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.人类 RELA 显性负突变是伴发自身炎症和自身免疫的 I 型干扰素病的基础。

J Exp Med. 2023 Sep 4;220(9). doi: 10.1084/jem.20212276. Epub 2023 Jun 5.

A Novel De Novo Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.一种新型从头错义突变与外胚层发育不良伴低丙种球蛋白血症相关。

Genes (Basel). 2022 Oct 19;13(10):1900. doi: 10.3390/genes13101900.

A heterozygous N-terminal truncation mutation of results in an impaired NF-κB dependent inflammatory response.一个杂合的N端截短突变导致NF-κB依赖的炎症反应受损。

Genes Dis. 2021 Apr 3;9(1):176-186. doi: 10.1016/j.gendis.2021.03.005. eCollection 2022 Jan.

Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.针对 NF-κB 通路的疾病治疗：机制与临床研究。

Signal Transduct Target Ther. 2020 Sep 21;5(1):209. doi: 10.1038/s41392-020-00312-6.

Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.显性负性 NFKBIA 突变促进 IL-1β 产生，导致伴有严重免疫缺陷的肝脏疾病。

J Clin Invest. 2020 Nov 2;130(11):5817-5832. doi: 10.1172/JCI98882.

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.肺炎球菌和葡萄球菌感染的遗传基础：人类 TLR 和 IL-1R 免疫的先天性错误。

Hum Genet. 2020 Jun;139(6-7):981-991. doi: 10.1007/s00439-020-02111-z. Epub 2020 Jan 24.

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.

本文引用的文献

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.常染色体显性遗传无汗性外胚层发育不良伴免疫缺陷的基因型-表型相关性机制。

J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17.

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.人类IκBα功能获得：一种严重的综合征性免疫缺陷。

J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z. Epub 2017 Jun 9.

J Clin Immunol. 2013 Oct;33(7):1165-74. doi: 10.1007/s10875-013-9924-z. Epub 2013 Jul 18.

J Allergy Clin Immunol. 2012 Feb;129(2):578-80. doi: 10.1016/j.jaci.2011.09.042. Epub 2011 Nov 10.

J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714.

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IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

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