检索结果-南通市图书馆

Clinical heterogeneity of NLRP12-associated autoinflammatory diseases

Genes & diseases 2023年第3期10卷 1090-1100页

作者： Yue Li Mengyue Deng Yulu Li Xiaolan Mao Shi Yan Xuemei Tang Huawei Mao Department of Rheumatology and Immunology Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of Child Infection and ImmunityChongqing 400014China Department of Rheumatology and Immunology Children's Hospital of Chongqing Medical UniversityChongqing 400014China

Nod-like receptor family pyrin domain-containing protein 12 (NLRP12) is one of the critical pattern recognition receptors which participates in the regulation of multiple inflammatory responses. Mutations in NLRP12 cause exceptionally rare NLRP12-associated autoinflammatory disease (NLRP12-AID). So far, very few patients with NLRP12-AID have been identified worldwide;therefore, data on the clinical phenotype and genetic profile are limited. In this study, we reported 10 patients who presented mainly with periodic fever syndrome or arthritis. Next-generation sequencing (NGS) identified 6 heterozygous mutations of NLRP12, including 2 novel null mutations. Of the patients, some with same mutations showed different clinical features. Compared to healthy controls, the increased levels of cytokines were revealed in the patients' plasmas, as well as in the supernatants of patients’ cells stimulated with lipopolysaccharide (LPS) or tumor necrosis factor-α (TNF-α). The missense mutations did not change the protein expression;but decreased level of NLRP12 protein was shown in the null mutations. And in vitro expression assay demonstrated a truncating protein induced by the frameshift mutation. Further functional studies revealed the deleterious effect of mutations on nuclear factor-kappa B (NF-κB) signaling. Both the null and missense mutations impaired their inhibition of NF-κB activation induced by p65. Collectively, this study reported a relatively large NLRP12-AID case series. Our findings expand the clinical spectrum, and reinforce the diversity of genetic mutations and clinical phenotypes. The NLRP12-associated disorder should be considered when autoinflammatory diseases are encountered in the clinical practice, especially for patients presenting with periodic fever but no other genetic cause identified.

关键词： autoinflammatory diseases Fanilial cold autoinflammatory syndr ome type 2(FCAS2) NLRP12-Associated autoinflammatory disease(NLRP12-AID) Nod-like receptor family pyrin domain-containing protein 12(NLRP12) Nuclear factor-Kappa B(NF-kB)

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

autoinflammatory diseases in childhood

引用

Modern Research in Inflammation 2014年第1期3卷 7-18页

作者： Betul Sozeri Ozgur Kasapcopur Department of Pediatric Rheumatology Medical FacultyEge UniversityIzmirTurkey Department of Pediatric Rheumatology Cerrahpasa Medical FacultyIstanbul UniversityIstanbulTurkey

autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes (systemic-onset juvenile idiopathic arthritis, PFAPA syndrome), complement dysregulation syndromes and Behcet’s disease. The hereditary autoinflammatory diseases are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. autoinflammatory diseases can activate NOD-like receptors and inflammasome products including especially interleukin 1β. In this review, it focuses on how recent advances have impacted hereditary autoinflammatory diseases.

关键词： autoinflammatory diseases Familial Mediterranean Fever Diagnosis Pathogenesis Treatment

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

The inflammasomes in health and disease:from genetics to molecular mechanisms of autoinflammation and beyond

引用

Cellular & Molecular Immunology 2011年第2期8卷 135-145页

作者： Cristina Conforti-Andreoni Paola Ricciardi-Castagnoli Alessandra Mortellaro Singapore Immunology Network(SIgN) Agency for ScienceTechnology and Research(A*STAR)ImmunosSingapore

Nucleotide-binding oligomerization domain(NOD)-containing protein-like receptors(NLRs)are a recently discovered class of innate immune receptors that play a crucial role in initiating the inflammatory response following pathogen *** NLRs form the framework for cytosolic platforms called inflammasomes,which orchestrate the early inflammatory process via IL-1b *** and polymorphisms in NLR-coding genes or in genetic loci encoding inflammasome-related proteins correlate with a variety of autoinflammatory ***,the activity of certain inflammasomes is associated with susceptibility to infections as well as autoimmunity and *** this review,we will discuss how identifying the genetic characteristics of inflammasomes is assisting our understanding of both autoinflammatory diseases as well as other immune system-driven disorders.

关键词： autoinflammatory diseases polymorphisms NLRs NLRP3

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：