Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.


Aytekin E., Cagdas D. N. , Tan C., Tezcan I.

European annals of allergy and clinical immunology, vol.53, pp.75-79, 2021 (Journal Indexed in ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53
  • Publication Date: 2021
  • Doi Number: 10.23822/eurannaci.1764-1489.146
  • Title of Journal : European annals of allergy and clinical immunology
  • Page Numbers: pp.75-79
  • Keywords: Hereditary angioedema, C1 esterase inhibitor deficiency, hereditary angioedema type 1, C1 esterase inhibitor, familial mediterranean fever, HEREDITARY ANGIOEDEMA, UPDATE, GENE

Abstract

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.