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.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
D Q CofieR H Scofield

Abstract

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.

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Citations

Oct 4, 2007·Annals of the New York Academy of Sciences·Annalisa Ballarini, Min Ae Lee-Kirsch
Dec 2, 2021·Forensic Science, Medicine, and Pathology·Fabio De-GiorgioGiuseppe Vetrugno

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