Familial autoimmunity: twenty years later

This report details a follow-up clinical and serological study of a patient with autoimmune hemolytic anemia and his family with multiple autoimmune related phenomena, originally reported in 1964. Clinical features thought to be related to the demonstration of various organ specific autoantibodies in the patient and in family members include hemolytic anemia, thyrotoxicosis, myocarditis, ulcerative colitis, polyarteritis nodosa and renal disease. The proband in this study demonstrates an abnormality of cellular immune function with a generalized decrease in T cell rosette formation and a large decrease in a subpopulation of T cells which may include suppressor T lymphocytes; this finding is consistent with the theory that autoimmune disease arises as an abnormality in the regulation of autoantibody production by B lymphocytes due to a decrease in suppressor T cell function. The results of our follow-up study of this patient and his family with diseases of immunological aberration strongly support the need for close monitoring of such patients and their family members, since early serological evidence of organ specific autoantibodies may be an initial signal of later target organ damage.