与NLRP12相关的自身炎症性疾病的临床异质性
Yue Li1, Mengyue Deng1, Yulu Li1
1Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.
Genes & diseases
|July 3, 2023
概括
与NLRP12相关的自身炎症性疾病 (NLRP12-AID) 是罕见的,通常呈现为周期性发烧或关节炎. 这项研究确定了新的NLRP12突变,并发现它们会损害NF-κB信号传递,扩大已知的疾病谱.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
背景情况:
- 节点状受体家族的pyrin域含有蛋白12 (NLRP12) 对于调节炎症反应至关重要.
- 在NLRP12的突变导致罕见的NLRP12相关的自身炎症性疾病 (NLRP12-AID),临床和遗传数据有限.
- 了解NLRP12-AID对于诊断和管理自身炎症状况至关重要.
研究的目的:
- 描述NLRP12-AID患者的临床表型和遗传特征.
- 确定新型NLRP12突变并研究它们对炎症信号传递的功能影响.
- 扩大对NLRP12-AID的遗传多样性和临床谱的理解.
主要方法:
- 招募了10名患有周期性发烧综合征或关节炎的患者.
- 进行下一代测序 (NGS) 来识别NLRP12突变.
- 分析了患者细胞中的细胞因子水平,NLRP12蛋白表达和核因子-kappa B (NF-κB) 信号通路.
主要成果:
- 在10名患者中鉴定了6种异性NLRP12突变,其中包括2种新的零突变.
- 在具有相同突变的患者中观察到不同的临床特征.
- 患者表现出细胞因子水平的增加和因突变的NLRP12蛋白质而导致NF-κB抑制受损.
结论:
- 这项研究报告了NLRP12-AID的显著病例系列,扩大了已知的临床和遗传谱.
- NLRP12突变可变地影响蛋白质表达和功能,导致NF-κB调节受损.
- 在患有不明原因的自身炎症性疾病,特别是周期性发烧的患者中,应考虑与NLRP12相关的疾病.
相关概念视频
01:30Inflammatory Bowel Disease II: Crohn's Disease
299
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
299
01:17Chronic Bowel Disorders: Introduction
489
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
489
01:29Autoimmune Disorders
517
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
517
02:26NF-κB-dependent Signaling Pathway
7.5K
The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
NF-κB-dependent Signaling Mechanism
The...
7.5K
01:24T Cell Types and Functions
1.1K
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
1.1K
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
223
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
223