Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.

@article{Parham2007PrevalenceOM,
  title={Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.},
  author={Kelly L Parham and Andrew Roberts and Andrew Maltez Thomas and Reinhard Wuerzner and Howard E. Henderson and Paul Charles Potter and B. Paul Morgan and Ann Orren},
  journal={Molecular immunology},
  year={2007},
  volume={44 10},
  pages={2756-60}
}
Complement component C6 is one of five terminal complement components incorporated into the membrane attack complex. Complete deficiency of C6 (C6Q0) leads to an increased susceptibility to Neisseria meningitidis infections, and affected individuals typically present with recurrent meningococcal disease. There is a relatively high prevalence of C6Q0 in the Western Cape, South Africa and three frameshift mutations have previously been described to be responsible for C6Q0 in this area-879delG… CONTINUE READING