Article
A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.
Molecular immunology - 1 Mar 2015
Owen E Patricia, Würzner Reinhard, Leisegang Felicity, Rizkallah Pierre, Whitelaw Andrew, Simpson John, Thomas Andrew D, Harris Claire L, Giles Joanna L, Hellerud Bernt C, Mollnes Tom E, Morgan B Paul, Potter Paul C, Orren Ann
Abstract excerpt
Patients with genetically determined deficiency of complement component 5 are usually diagnosed because of recurrent invasive Neisseria meningitidis infections. Approximately 40 individual cases have been diagnosed worldwide. Nevertheless, reports of the responsible genetic defects have been sporadic, and we know of no previous reports of C5 deficiency being associated with a number of independent meningococcal...
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