An update on the genetics and pathogenesis of hereditary angioedema.
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ABSTRACT:
SUBMITTER: Banday AZ
PROVIDER: S-EPMC7063419 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
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An update on the genetics and pathogenesis of hereditary angioedema.
Banday Aaqib Zaffar AZ Kaur Anit A Jindal Ankur Kumar AK Rawat Amit A Singh Surjit S
Genes & diseases 20190801 1
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 (<i>SERPING1</i>), factor XII (<i>F12</i>), plasminogen (<i>PLG</i>) and angiopoietin 1 (<i>ANGPT 1</i ...[more]
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