Combined familial C7 and C4B deficiency in an adult with meningococcal disease.
A case of meningococcal septicaemia is reported in an adult with a deficiency of the seventh component of complement combined with a deficiency of the B locus product of C4. A family study demonstrated that the two deficiencies were not linked. This is the first time that the individual alleles of C4 were determined in a patient with a deficiency of one component of the terminal pathway. It is possible that the heterogeneous clinical picture of a terminal pathway deficiency may, in part, be explained by the co-existence of other subtle complement defects.
D000328:Adult; D003181:Complement C4 / Q000172:deficiency* / Q000235:genetics; D015935:Complement C4b; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D008589:Meningococcal Infections / Q000276:immunology*; D010375:Pedigree
D003181:Complement C4; D003184:Complement C7; D015935:Complement C4b