PROPERDIN DEFICIENCY IN A FAMILY WITH FULMINANT MENINGOCOCCAL INFECTIONS

Abstract

Three males in a large family showed a selective properdin (P) deficiency. One died from a fulminant infection with Neisseria meningitidis group C. The family history revealed 3 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. Heterozygous carriers were not clearly distinguished in the family. P-deficient serum supported immune hemolysis in a normal fashion. Alternative pathway functions, such as the activation of [complement component] 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; efficient C3 activation was produced by addition of cobra venom factor.