[Properdin mutations a risk factor for meningitis].

Abstract excerpt

Properdin deficiency is a rare X-chromosomal single gene immunological disorder that causes an increased risk for severe infectious diseases, especially for Neisseria meningitidis in males. Here we describe a Finnish family with a novel mutation in the properdin gene. The index-patient was diagnosed to have meningococcal meningitis and severe properdin deficiency that was caused by a nonsense mutation in exon 9...

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