'Hae unknown' diaporamas de présentation

Hereditary Angioedema

Hereditary Angioedema. Initially described by Osler in 1888, HAE is an autosomal dominant disease caused by a deficiency in functional C1 inhibitor. More than 150 point mutations of SERPING1 (the gene encoding for C1-INH) have been described Prevalence 1:50000 (rare disease).

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