Properdin deficiency in a family with fulminant meningococcal infections

Clin Exp Immunol. 1982 Nov;50(2):291-7.

Abstract

Three males in a large family showed a selective deficiency of properdin (P). One of the P deficient individuals died from a fulminant infection with Neisseria meningitidis group C. The family history revealed three previous cases of similar infections with a fatal outcome. The deficiency did not appear to be associated with repeated bacterial infections. The pattern of inheritance suggested an X-linked mode of transmittance. However, heterozygous carriers were not clearly distinguished in the family. P deficient serum supported immune haemolysis in a normal fashion. Alternative pathway functions, such as the activation of C3 by inulin or zymosan, lysis of guinea-pig erythrocytes in agarose gel and opsonization of endotoxin coated oil particles, were grossly impaired in P deficient serum while efficient C3 activation was produced by addition of cobra venom factor.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Complement C3 / analysis
  • Complement System Proteins / deficiency
  • Female
  • Humans
  • Immunoelectrophoresis, Two-Dimensional
  • Immunoglobulins / analysis
  • Male
  • Meningococcal Infections / genetics*
  • Meningococcal Infections / immunology
  • Pedigree
  • Properdin / deficiency*

Substances

  • Complement C3
  • Immunoglobulins
  • Properdin
  • Complement System Proteins