F12 Variant–Related Hereditary Angioedema with Normal C1 Inhibitor : Three Cases from a Moroccan Family
Abstract
Hereditary angioedema with normal C1 inhibitor (HAE-nC1INH) is a rare autosomal dominant disorder mediated by bradykinin. Mutations in the F12 gene, encoding coagulation factor XII, are a major cause of this condition (formerly type III HAE). It is characterized by skin swellings, abdominal pain, and the risk of asphyxiation from upper airway obstruction. HAE-nC1INH has also been associated with variants in ANGPT1, PLG, KNG1, MYOF, and HS3ST6. In Morocco, HAE remains underdiagnosed, partly due to immunogenetic diversity.
Fields of Study & Subjects
Coagulation
Bradykinin
Polyphosphates
and Angioedema
Complement system in diseases
Pineapple and bromelain studies
Publication details
- Journal / source
- World Allergy Organization Journal
- Volume
- 19
- Issue
- 2
- Pages
- 101305–101305
- Publication date
- 1 February 2026
- Language
- EN