title: [Properdin mutations a risk factor for meningitis].
abstract: 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 (c.1164G > A; W377X). The mutation was inherited from his mother and was also detected in his brother, two maternal aunts, one female cousin and her son. Vaccinations and preventive antibiotics were given to all males at risk.
authors.affiliation: HUS:n silmäsairaala ja Helsingin yliopisto, Haartman-instituutti, lääketieteellisen genetiikan osasto 00251 Helsinki.
authors.forename: Sanna
authors.initials: S
authors.lastname: Seitsonen
authors.forename: Merja
authors.initials: M
authors.lastname: Helminen
authors.forename: Hanna
authors.initials: H
authors.lastname: Jarva
authors.forename: Seppo
authors.initials: S
authors.lastname: Meri
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008585:Meningitis, Meningococcal / Q000188:drug therapy / Q000235:genetics*; D009345:Neisseria meningitidis / Q000187:drug effects / Q000235:genetics / Q000276:immunology; D010375:Pedigree; D011414:Properdin / Q000172:deficiency*; D012307:Risk Factors
chemical_list: D018389:Codon, Nonsense; D011414:Properdin