Selective deficiencies in complement component : a family with hereditary C2 deficiency.
We report herein a new case of C2 deficiency in a patient with systemic lupus. The subject and one of her brothers, who shows no clinical manifestations, are hymozygous C2 deficient. All other family members are heterozygous for the C2 deficiency. Gene for C2 deficiency (C2d) was shown to be inherited with HLA-A9, B7/Bfs and HLA-A10, B27/Bfs haplotypes. This association has not previously been described.
D000293:Adolescent; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D011415:Complement Factor B; D005260:Female; D006680:HLA Antigens; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000276:immunology; D010375:Pedigree; D011247:Pregnancy
D003175:Complement C2; D006680:HLA Antigens; D011415:Complement Factor B