HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus.
A fifty-year-old man with a history of recurrent bronchial and renal infections, and rheumatoid arthritis was admitted with a sunexposure-induced discoid lupus erythematosus. Complement levels and HLA typing of the patient and his family revealed a homozygous C2 deficiency in the patient and his HLA-identical healthy younger sister. The C2 deficiency gene was associated with HLA-A10, B18, DR2, C4A4B2, BfS on one chromosome and with HLA-A2, B7, DR2, C4A4B2, BfS on the other.
D001172:Arthritis, Rheumatoid / Q000150:complications; D001991:Bronchitis / Q000150:complications; D003175:Complement C2 / Q000172:deficiency*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000150:complications / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011704:Pyelonephritis / Q000150:complications
D003175:Complement C2; D006680:HLA Antigens