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Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family

✍ Scribed by FERRARO, M; SARTI, W; SOUZA, A; DONADI, E; CASTELLI, E; BORK, K; ARRUDA, L

Book ID: 119280099
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 52 KB
Volume: 121
Category: Article
ISSN: 1097-6825
DOI: 10.1016/j.jaci.2007.12.402

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Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema caused by the deficiency of activated C1 esterase inhibitor protein (C1-INH, type I (C1NH): reduced serum antigen level, type II: reduced activity and normal serum