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

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An update on the genetics and pathogenesis of hereditary angioedema

更新时间：2022-06-24

- An update on the genetics and pathogenesis of hereditary angioedema
- Genes & Diseases Vol. 7, Issue 1, (2020)
- 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
  CLC：
- Published：2020，
  
  Published Online：1 March 2020，
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Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, et al. An update on the genetics and pathogenesis of hereditary angioedema. [J]. Genes & Diseases 7(1).(2020)
DOI：

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

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