Article
C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR.
The Journal of allergy and clinical immunology - 1 Sept 2004
Pappalardo Emanuela, Zingale Lorenza C, Cicardi Marco
Abstract excerpt
BACKGROUND: Hereditary angioedema (HAE) is caused by heterozygous defects in the C1 inhibitor (C1-INH) gene (SERPING1/C1NH). In patients' plasma C1-INH levels range between 5% and 30% of normal levels (ie, far from the 50% expected for an autosomal dominant defect). Most patients have antigenic and functional deficiency (type I HAE), and 15% have reduced C1-INH function but normal to increased antigen because of...
Topics
- Angioedema
- Complement C1 Inactivator Proteins
- Complement C1 Inhibitor Protein
- Down-Regulation
- Female
- Humans
- Leukocytes, Mononuclear
- Male
- Mutation
- RNA, Messenger
- Reverse Transcriptase Polymerase Chain Reaction