Paternal mosaicism and hereditary angioedema in a Taiwanese family

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Paternal mosaicism and hereditary angioedema in a Taiwanese family (Ann Allergy Asthma Immunol. 2007 Oct;99(4):375-9). Authors are Yu TC Shyur SD Huang LH et al, from the Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. 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). Mosaicism is rare in HAE. Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children. To access the full abstract of the article, click here.