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Syndrome of type II polyglandular autoimmunity associated with HLA-DR4 in a large kindred, including HLA-DR3/DR4 heterozygosity in the probands, identical twins with identical manifestations.

Autoimmune destruction and resultant failure of multiple organ systems constitute an uncommon entity known as type II polyglandular failure. Occasionally, the syndrome is familial, and in the kindreds studied, individual patients have manifested different sets of the associated diseases. We describe a large family in which the presence of HLA-DR4 was associated with development of this syndrome. More commonly, HLA-DR3 has been associated with type II polyglandular failure. The probands are monozygotic twin sisters in whom an identical set of autoimmune diseases occurred in the same order of onset and at approximately the same age. These data suggest that not only do specific factors predispose to this syndrome but also distinct factors determine which individual diseases are expressed.