Properdin deficiency in a family with fulminant meningococcal infections.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003176:Complement C3 / Q000032:analysis; D003165:Complement System Proteins / Q000172:deficiency; D005260:Female; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D007136:Immunoglobulins / Q000032:analysis; D008297:Male; D008589:Meningococcal Infections / Q000235:genetics* / Q000276:immunology; D010375:Pedigree; D011414:Properdin / Q000172:deficiency*
D003176:Complement C3; D007136:Immunoglobulins; D011414:Properdin; D003165:Complement System Proteins