Format

Send to

Choose Destination

See 1 citation found using an alternative search:

Immunol Allergy Clin North Am. 2013 Nov;33(4):457-70. doi: 10.1016/j.iac.2013.07.002. Epub 2013 Sep 5.

Hereditary angioedema with normal C1 inhibitor.

Author information

1
Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany. Electronic address: bork@hautklinik.klinik.uni-mainz.de.

Abstract

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

KEYWORDS:

Coagulation factor XII; Hereditary angioedema type III; Hereditary angioedema with normal C1 inhibitor; Kallikrein-kinin pathway; Mutations in the F12 gene

PMID:
24176211
DOI:
10.1016/j.iac.2013.07.002
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center