Recombinant Expression and 3D-Modelling of C1-Inhibitor Mutants

摘要

Hereditary angioedema (HAE) is an autosomal dominant disease due to mutations of the Cl inhibitor gene (Cl-INH). With Cl-INH deficiency, proper control of the classical complement pathway, contact system and intrinsic blood coagulation is lacking. As a result vasoactive peptides are generated in excess which are responsible for the characteristic symptoms like recurrent non pruritic swellings of the skin or mucosa as well as painful crampi of the abdomen.Over the past years, we have established a genetic screening protocol for the genetic diagnosis of HAE in cooperation with the children's hospital in Frankfurt.