Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations

被引：67

作者：

Bork, Konrad ^{[1
]}

机构：

[1] Johannes Gutenberg Univ Mainz, Dept Dermatol, D-55131 Mainz, Germany

来源：

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2006年 / 26卷 / 04期

关键词：

D O I：

10.1016/j.iac.2006.09.003

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described; all patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. Recently, in some families mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected women.

引用

页码：709 / +

页数：17

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