HLA antigen studies in a family with C2 deficiency.
Two children in a family were found to be homozygous for C2 deficiency; both parents and a third child were heterozygous. C2 deficiency was associated with the HLA haplotypes carrying the antigens B18 and DW2. Antigen A10 was absent in this family. Mixed lymphocyte culture studies among the family members confirmed the association of C2 deficiency with the HLA-D locus.
D000328:Adult; D002648:Child; D003175:Complement C2 / Q000172:deficiency*; D003165:Complement System Proteins / Q000172:deficiency*; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006680:HLA Antigens; D006579:Heterozygote; D006649:Histocompatibility Antigens; D006720:Homozygote; D006801:Humans; D007223:Infant; D007959:Lymphocyte Culture Test, Mixed; D008297:Male; D010641:Phenotype
D003175:Complement C2; D006680:HLA Antigens; D006649:Histocompatibility Antigens; D003165:Complement System Proteins