Correlation of the HLA-A1,B8 haplotypes with circulating autoantibodies in a family with increased incidence of autoimmune disease.
Two cases of Addison's disease, two cases of scleroderma, three cases of primary hypothyroidism possibly due to Hashimoto's thyroiditis, three cases of diabetes mellitus, and two cases of ovarian failure and secondary amenorrhoea were diagnosed in a single family. In 44 members of four generations of the family including all the diseased, we have performed HLA typing and measurement of circulating autoantibodies. All diseased patients were older than 12 years, all possessed HLA B8 antigen, and all but two showed specific autoantibodies in their serum. In contrast, none of the family members without HLA B8 developed any of the autoimmune diseases in spite of the fact that in 13 of them some circulating autoantibodies were demonstrable in the serum. It is concluded that genetic factors play an essential role in the development of autoimmunity in the studied family. The individuals acquire circulating autoantibodies as they develop the disease. Environmental factors play a secondary role as evident from the age dependence. HLA typing can become an important diagnostic tool in identifying the individuals at a risk of autoimmune disease. Detection of circulating serum autoantibodies alone correlated poorly with the autoimmune disease.
D000224:Addison Disease / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D001323:Autoantibodies / Q000032:analysis*; D001327:Autoimmune Diseases / Q000235:genetics*; D002648:Child; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D015788:HLA-A1 Antigen; D006238:Haploidy; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D008297:Male; D010049:Ovarian Diseases / Q000235:genetics; D012595:Scleroderma, Systemic / Q000235:genetics; D013967:Thyroiditis, Autoimmune / Q000235:genetics
D001323:Autoantibodies; D006680:HLA Antigens; D015788:HLA-A1 Antigen