Correlation of the HLA-A1,B8 haplotypes with circulating autoantibodies in a family with increased incidence of autoimmune disease

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Abstract
Two cases of Addison''s disease, 2 cases of scleroderma, 3 cases of primary hypothyroidism possibly due to Hashimoto''s thyroiditis, 3 cases of diabetes mellitus and 2 cases of ovarian failure and secondary amenorrhea were diagnosed in a single family. In 44 members of 4 generations of the family including all the diseased, HLA typing and measurement of circulating autoantibodies were performed. All diseased patients were older than 12 yr, all possessed HLA B8 antigen, and all but 2 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. 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.