Hereditary C2 deficiency associated with common variable immunodeficiency.
Homozygous C2 deficiency in a 19-year-old boy was associated with variable immunodeficiency manifested by marked hypoimmunoglobulinemia and impaired antibody responses, normal circulating B lymphocytes, and subnormal T-cell functions. Neither antilymphocytic autoantibodies nor chromosomal abnormalities were found. Serum immunoglobulin levels were within normal limits in his parents and brother who were heterozygous for C2 deficiency. The patient's lymphocytes were homozygous at the HLA-D locus but expressed an antigen different from DW2.
D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications / Q000235:genetics; D000917:Antibody Formation; D001323:Autoantibodies / Q000032:analysis; D001402:B-Lymphocytes / Q000276:immunology; D003175:Complement C2 / Q000172:deficiency*; D003241:Consanguinity; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013601:T-Lymphocytes / Q000276:immunology
D001323:Autoantibodies; D003175:Complement C2; D006680:HLA Antigens