Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series

Abstract Data on hereditary angioedema with normal C1 inhibitor levels are currently limited. To date, only one Italian family with HAE-MYOF has been described, comprising exclusively female members. The angioedema (AE) of head and neck area with the teenage onset, triggered by menses and high fever...

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Detalhes bibliográficos

Principais autores:	Daria S. Fomina, Marina S. Lebedkina, Elena N. Bobrikova, Yulia D. Yukhnovskaya, Anna A. Roppelt, Olga A. Mukhina, Ulyana A. Markina, Yulia G. Alexeeva, Ekaterina A. Nikitina, Marcus Maurer, Alexander V. Karaulov, Maryana A. Lysenko, Thomas Buttgereit
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-08-01
Colecção:	Orphanet Journal of Rare Diseases
Assuntos:	Myoferlin Hereditary angioedema Angioedema
Acesso em linha:	https://doi.org/10.1186/s13023-025-03932-9
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