Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.
The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.
D000328:Adult; D003175:Complement C2 / Q000172:deficiency*; D003183:Complement C6 / Q000172:deficiency*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics; D005838:Genotype; D006680:HLA Antigens; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D003175:Complement C2; D003183:Complement C6; D006680:HLA Antigens