Hereditary angioedema (HAE) – epidemiology, genetics and pathophysiology

Organisational unit: Research group


Hereditary angioedema (HAE) is a rare but important disease caused by a genetic deficiency or impaired function of the C1-esterase inhibitor (C1INH). C1INH is a key regulator of complement and the contact activation system. In HAE, the dysfuntional C1INH-activity results in recurrent swellings of skin and mucosal linings. In the project, we investigate genetics and co-morbidities in HAE from an epidemiological perspective. In addition, possible interference of HAE with coagulation and host defense is characterized using clinical samples. The aim is to identify novel opportunities to prevent and treat hitherto unknown co-morbidities in HAE.

Recent research outputs

Arne Egesten & Heiko Herwald, 2021, In: Journal of Innate Immunity. 13, 2, p. 61-62 2 p.

Research output: Contribution to journalArticle

Mahya Dezfouli, Sofia Bergström, Lillemor Skattum, Hassan Abolhassani, Maja Neiman, Monireh Torabi-Rahvar, Clara Franco Jarava, Andrea Martin-Nalda, Juana M. Ferrer Balaguer, Charlotte A. Slade, Anja Roos, Luis M. Fernandez Pereira, Margarita López-Trascasa, Luis I. Gonzalez-Granado, Luis M. Allende-Martinez, Yumi Mizuno, Yusuke Yoshida, Vanda Friman, Åsa Lundgren, Asghar Aghamohammadi & 9 others, Nima Rezaei, Manuel Hernández-Gonzalez, Ulrika von Döbeln, Lennart Truedsson, Toshiro Hara, Shigeaki Nonoyama, Jochen M. Schwenk, Peter Nilsson & Lennart Hammarström, 2020 Mar 17, In: Frontiers in Immunology. 11, 455.

Research output: Contribution to journalArticle

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