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

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

European annals of allergy and clinical immunology, cilt.53, ss.75-79, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53
  • Basım Tarihi: 2021
  • Doi Numarası: 10.23822/eurannaci.1764-1489.146
  • Dergi Adı: European annals of allergy and clinical immunology
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, PASCAL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.75-79
  • Anahtar Kelimeler: Hereditary angioedema, C1 esterase inhibitor deficiency, hereditary angioedema type 1, C1 esterase inhibitor, familial mediterranean fever, HEREDITARY ANGIOEDEMA, UPDATE, GENE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.