ISSN 1214-0287 (on-line)
ISSN 1214-021X (printed)

Volume 5 (2007), No 2, p 71-76

Down syndrome and coexistent autoimmune diseases

Dimitry Chistiakov

Address: Dimitry Chistiakov, Department of Pathology, University of Pittsburgh Medical Center, A719 Scaife Hall, 3550 Terrace st., Pittsburgh, PA15261, USA

Received 30th November 2006.
Published online 22nd March 2007.

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Down syndrome (DS) is often accompanied by autoimmune diseases. Among those, autoimmune thyroid disease, type 1 diabetes and celiac disease are the most common. The major cause of enhanced vulnerability of DS patients to a variety of autoimmune diseases is impaired immune response, with multiple abnormalities in all components of the immune system, especially in cell-mediated immunity. This could explain a significantly higher frequency of autoimmune disorders in DS compared to the general population. The diagnosis of autoimmune diseases accompanying DS could be complicated by masking effects of the underlying features of the syndrome such as failure to thrive, short stature and delayed puberty. However, screening for immunological signs of coexistent autoimmunity such as tissue-specific antibodies and monitoring insulin secretion, glucose levels, thyroid function and other metabolic parameters should help in early diagnosis of coexistent autoimmunity in DS patiens.

autoimmune thyroid disease; celiac disease; coexistence; Down syndrome; type 1 diabetes

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