Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema
V Bafunno, D Firinu, M D'Apolito, G Cordisco… - Journal of Allergy and …, 2018 - Elsevier
Background Hereditary angioedema (HAE) is a rare genetic disease usually caused by
mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of
patients with HAE, no causative variants have been described, and the pathophysiology of
the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U-
HAE]). Identification of causative genes in patients with U-HAE is valuable for understanding
the cause of the disease. Objective We conducted genetic studies in Italian patients with U …
mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of
patients with HAE, no causative variants have been described, and the pathophysiology of
the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U-
HAE]). Identification of causative genes in patients with U-HAE is valuable for understanding
the cause of the disease. Objective We conducted genetic studies in Italian patients with U …