An update on the genetics and pathogenesis of hereditary angioedema

Aaqib Zaffar Banday; Anit Kaur; Ankur Kumar Jindal; Amit Rawat; Surjit Singh

doi:10.1016/j.gendis.2019.07.002

您当前的位置：

首页 >

文章列表页 >

An update on the genetics and pathogenesis of hereditary angioedema

Review article | 更新时间：2022-06-24

- An update on the genetics and pathogenesis of hereditary angioedema
- An update on the genetics and pathogenesis of hereditary angioedema
- Genes & Diseases 2020年7卷第1期
- 作者机构：
  
  Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research,Chandigarh,India
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.07.002
  中图分类号：
- 纸质出版日期：2020，
  
  网络出版日期：2020-3-1，
扫描看全文
Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, 等. An update on the genetics and pathogenesis of hereditary angioedema[J]. Genes & Diseases, 2020,7(1).

Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, et al. An update on the genetics and pathogenesis of hereditary angioedema[J]. Genes & Diseases, 2020,7(1).
Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, 等. An update on the genetics and pathogenesis of hereditary angioedema[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.07.002.

Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, et al. An update on the genetics and pathogenesis of hereditary angioedema[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.07.002.

摘要

Abstract

Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement

kinin and hemostatic pathway. Till date

mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (

SERPING1

)

factor XII (

F12

)

plasminogen (

PLG

) and angiopoietin 1 (

ANGPT 1

). These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in

ANGPT1

gene that disturbs the cytoskeletal assembly of vascular endothelial cells. In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE. We also provide an overview of possible future prospects in the identification of new genetic defects in HAE.

关键词

Keywords

Angiopoietin 1C1 inhibitorFactor XIIGeneticsHereditary angioedemaPlasminogen

references

查看原文

浏览量

下载量

CSCD

文章被引用时，请邮件提醒。

提交

工具集

关联资源

Parkinson's disease: From genetics to molecular dysfunction and targeted therapeutic approaches

Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management

Recent advances in elucidating the genetics of common variable immunodeficiency

Genetics of severe combined immunodeficiency

Recent advances in chronic granulomatous disease