title: Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe.
abstract: We describe the first cases, to our knowledge, of C9 deficiency in Europe that were detected in a Swiss family, of which two members--one with a complete deficiency and the other with approximately half-normal C9 levels--experienced bacterial meningitis. The index patient, a 56-year-old white man with a history of purulent meningitis at the age of 23 years, presented with an acute meningococcal meningitis. No impairment of cellular immunity or immunoglobulin deficiency could be found. Complement assays showed a complete deficiency of the C9 component, while the other individual component levels were normal and the hemolytic activity (measured using the CH50 assay) was only slightly reduced. A family study revealed complete C9 deficiency in the patient's healthy brother and half-normal C9 concentrations in his sister, his son (who also had experienced an episode of bacterial meningitis), and his niece, consistent with an inherited C9 deficiency. This first case of recurrent meningitis in a white patient with complete C9 deficiency suggests that this complement defect may also be a risk factor for bacterial, especially neisserial, infections.
authors.affiliation: Medical Division, Anna Seiler-Haus, Inselspital, Bern, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Zoppi
authors.forename: M
authors.initials: M
authors.lastname: Weiss
authors.forename: U E
authors.initials: UE
authors.lastname: Nydegger
authors.forename: T
authors.initials: T
authors.lastname: Hess
authors.forename: P J
authors.initials: PJ
authors.lastname: Späth
mesh_terms: D003186:Complement C9 / Q000172:deficiency*; D015938:Complement Membrane Attack Complex / Q000276:immunology; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008581:Meningitis / Q000453:epidemiology* / Q000382:microbiology; D008585:Meningitis, Meningococcal / Q000453:epidemiology*; D008875:Middle Aged; D010375:Pedigree; D012008:Recurrence; D013557:Switzerland / Q000453:epidemiology
chemical_list: D003186:Complement C9; D015938:Complement Membrane Attack Complex