Tuesday May 21, 2024

Episode 18 – Factor XII mutation in HAE

Professor Anete Grumach joins Dr Thomas Buttgereit to discuss factor XII mutation in people with HAE, including the reasons for the high prevalence in females and recommended genetic tests.

For more information about the GA2LEN ACARE network and its activities please visit https://acare-network.com/. Additional resources relating to the topics discussed in this episode can be found here: Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema; CpaA is a glycan-specific adamalysin-like protease secreted by Acinetobacter baumannii that inactivates coagulation factor XII; and Angioedema with normal complement studies: What do we know?

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