Article
Linking C5 deficiency to an exonic splicing enhancer mutation.
Journal of immunology (Baltimore, Md. : 1950) - 1 Apr 2005
Pfarr Nicole, Prawitt Dirk, Kirschfink Michael, Schroff Claudia, Knuf Markus, Habermehl Pirmin, Mannhardt Wilma, Zepp Fred, Fairbrother William G, Fairbrother William, Loos Michael, Burge Christopher B, Pohlenz Joachim
Abstract excerpt
As an important component of the innate immune system, complement provides the initial response to prevent infections by pathogenic microorganisms. Patients with dysfunction of C5 display a propensity for severe recurrent infections. In this study, we present a patient with C5 deficiency demonstrated by immunochemical and functional analyses. Direct sequencing of all C5 exons displayed no mutation of obvious...
Topics
- Alternative Splicing
- Child, Preschool
- Complement C5
- DNA Mutational Analysis
- Exons
- Family Health
- Humans
- Male
- Mutation
- Phenotype
- Sequence Analysis, DNA