Article
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.
Immunobiology - 1 May 2016
da Silva Karina Ribeiro, Fraga Tatiana Rodrigues, Lucatelli Juliana Faggion, Grumach Anete Sevciovic, Isaac Lourdes
Abstract excerpt
Primary deficiency of complement C3 is rare and usually associated with increased susceptibility to bacterial infections. In this work, we investigated the molecular basis of complete C3 deficiency in a Brazilian 9-year old female patient with a family history of consanguinity. Hemolytic assays revealed complete lack of complement-mediated hemolytic activity in the patient's serum. While levels of the complement...
Topics
- Adult
- Alternative Splicing
- Brazil
- Child
- Complement C3
- Complement Pathway, Alternative
- Complement Pathway, Classical
- DNA Mutational Analysis
- Exons
- Female
- Genotype
- Humans
- Immunologic Deficiency Syndromes
- Male
- Mutation
- Pedigree
- Protein Interaction Domains and Motifs
- RNA, Messenger