Inherited deficiency of C8 in a patient with recurrent meningococcal infections: further evidence for a dysfunctional C8 molecule and nonlinkage to the HLA system.
An adult male with recurrent meningococcal infections is reported whose serum lacked functional C8 activity but possessed antigenic C8. The addition of 1500 U of purified C8/ml of serum restored hemolytic activity to normal. Four to five times more C8 was required to restore bactericidal activity than to restore hemolytic activity. Bactericidal activity could also be restored by mixing the patient's serum with a second C8-deficient serum that lacked detectable antigenic or functional C8. The patient's serum contained bactericidal antibody for groups A, B, C, and Y meningococci and specific antibody to group Y capsular polysaccharide. There was two to three times more bactericidal antibody activity in the serum than in a pool of normal sera for the infecting strain. Family studies disclosed a sibling who was HLA identical to the patient but whose serum contained normal amounts of total hemolytic and C8 functional activity.
D000293:Adolescent; D000907:Antibodies, Bacterial / Q000032:analysis; D001770:Blood Bactericidal Activity; D003185:Complement C8 / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D000939:Epitopes; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006461:Hemolysis; D006801:Humans; D008297:Male; D008589:Meningococcal Infections / Q000235:genetics / Q000276:immunology*; D009504:Neutrophils / Q000276:immunology
D000907:Antibodies, Bacterial; D003185:Complement C8; D000939:Epitopes; D006680:HLA Antigens