A family with partial and total deficiency of complement C3.
A young White girl was found to have no detectable complement C3 or C1q. She suffered repeated attacks of pneumococcal meningitis and pneumococcal pneumonia. Her parents, and some of her siblings, had half the normal level of C3; other siblings were normal. She also had decreased IgG levels and increased IgM concentrations. These findings are correlated with a dysmorphic state of the germinal centres of the peripheral lymphoid tissues, seen after death.
D002648:Child; D002675:Child, Preschool; D003176:Complement C3 / Q000172:deficiency*; D003165:Complement System Proteins / Q000172:deficiency*; D004406:Dysgammaglobulinemia / Q000150:complications; D005260:Female; D005796:Genes; D006801:Humans; D007074:Immunoglobulin G; D007223:Infant; D008297:Male; D008586:Meningitis, Pneumococcal / Q000235:genetics*
D003176:Complement C3; D007074:Immunoglobulin G; D003165:Complement System Proteins