Article
Paternal mosaicism and hereditary angioedema in a Taiwanese family.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology - 1 Oct 2007
Yu Tai-Chang, Shyur Shyh-Dar, Huang Li-Hsin, Wen Da-Chin, Li Jia-Shiuan
Abstract excerpt
BACKGROUND: Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas the rest (approximately 15%) synthesize a dysfunctional C1 INH protein (type II HAE)....
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