相关实验视频

Updated: Jun 19, 2025

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

在患有常见可变免疫缺陷和自身免疫的患者中发现了IRF2BP2的新型超形变异

Manfred Anim¹, Georgios Sogkas², Nadezhda Camacho-Ordonez³

¹Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany; Hannover Biomedical Research School (HBRS), Hannover Medical School, Hanover, Germany.

Clinical immunology (Orlando, Fla.)

|July 26, 2024

概括

干扰素调节因子2结合蛋白2 (IRF2BP2) 的新型变异会损害其功能,导致免疫失调. 这些IRF2BP2突变破坏了关键免疫因子的核转移,导致免疫缺陷和自身免疫.

科学领域:

免疫学免疫学免疫学
分子生物学分子生物学
遗传学遗传学是一种遗传学.

背景情况:

干扰素调节因子2结合蛋白2 (IRF2BP2) 是一种参与细胞信号传递的转录核心抑制剂.
IRF2BP2中的突变与常见的可变免疫缺陷 (CVID) 和免疫调节失调有关.
了解IRF2BP2的作用对于诊断和治疗原发性抗体缺陷和自身免疫性疾病至关重要.

研究的目的:

研究三种新型IRF2BP2变异在患有原发性抗体缺乏和自身免疫的患者中发现的功能影响.
分析这些变异对IRF2BP2表达,定位和与IRF2和NFκB1的相互作用的影响.
阐明导致IRF2BP2相关免疫失调的致病机制.

主要方法:

整体外基因组测序 (WES) 用于识别IRF2BP2变体.
在HEK293和Jurkat细胞系中,EGFP融合的IRF2BP2突变体过度表达.
光显微镜,实时PCR和西部斑点测试以评估IRF2和NFκB1的蛋白质表达,定位和核转位.

主要成果:

与野生类型相比,突变的IRF2BP2显示了改变的mRNA和蛋白质表达水平.
C端的RING指域变体表现出不规则的聚合物形成和受损的核定位.
突变者显示IRF2和NFκB1的核转位受损 (p50),在LPS刺激时IRF2BP2mRNA表达减少.

结论:

新的IRF2BP2变种破坏了其作为转录调节器的功能,影响了免疫细胞的信号传递.
由于IRF2BP2突变,IRF2和NFκB1(p50) 的核转移受损导致免疫缺陷和自身免疫.
这些发现突显了IRF2BP2在免疫系统病原和调节中的临床意义.

关键词:

在CVID中,我们可以看到.IRF2BP2 (IFN调控因子2结合蛋白2的IFN调控因子2)免疫系统的调节失调.NFκB1 (p50) 是一个主要免疫缺陷是一个主要的免疫缺陷.

更多相关视频

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

Published on: October 6, 2019

A High Resolution Method to Monitor Phosphorylation-dependent Activation of IRF3

A High Resolution Method to Monitor Phosphorylation-dependent Activation of IRF3

Published on: January 24, 2016

相关概念视频

Antigens Involved in Adaptive Immunity

Antigens Involved in Adaptive Immunity

An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...