European annals of allergy and clinical immunology, vol.53, pp.75-79, 2021 (Journal Indexed in ESCI)
Article / Article
Title of Journal :
European annals of allergy and clinical immunology
Hereditary angioedema, C1 esterase inhibitor deficiency, hereditary angioedema type 1, C1 esterase inhibitor, familial mediterranean fever, HEREDITARY ANGIOEDEMA, UPDATE, GENE
Hereditary angioedema (HAE) is a primary complement factor deficiency, characterized by recurrent submucosal/subcutaneous swelling episodes. SERPING1 gene defects encoding C1 esterase inhibitor (C1INH) are responsible from the disease.