Autoimmune Polyglandular Syndrome Type 1

Common Name(s)

Autoimmune Polyglandular Syndrome Type 1

Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autoimmune Polyglandular Syndrome Type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Autoimmune Polyglandular Syndrome Type 1" returned 6 free, full-text research articles on human participants. First 3 results:

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
 

Author(s): Katarina Trebusak Podkrajsek, Tatjana Milenković, Roelof J Odink, Hedi L Claasen-van der Grinten, Nina Bratanic, Tinka Hovnik, Tadej Battelino

Journal: Eur. J. Endocrinol.. 2008 Nov;159(5):633-9.

 

Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.

Last Updated: 28 Oct 2008

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Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II.
 

Author(s): Elizabeth Ramos-Lopez, Britta Lange, Heinrich Kahles, Holger S Willenberg, Gesine Meyer, Marissa Penna-Martinez, Nicole Reisch, Stefanie Hahner, Jürgen Seissler, Klaus Badenhoop

Journal:

 

Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from beta-cell autoimmunity.

Last Updated: 18 Jul 2008

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A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.
 

Author(s): Li Zhang, Jennifer M Barker, Sunanda Babu, Maureen Su, Matthew Stenerson, Mickie Cheng, Anthony Shum, Ehud Zamir, Raffaele Badolato, Adam Law, George S Eisenbarth, Mark S Anderson

Journal: Clin. Immunol.. 2007 Nov;125(2):131-7.

 

High titer antibodies to type 1 interferons have been recently reported as being highly specific for patients with autoimmune polyglandular syndrome type 1 (APS1) in Finnish and Norwegian patients with mutations in the AIRE gene. Those studies employed a complex neutralization assay ...

Last Updated: 22 Oct 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Autoimmune Polyglandular Syndrome Type 1" returned 1 free, full-text review articles on human participants. First 3 results:

Type 1 diabetes and autoimmune polyglandular syndrome: a clinical review.
 

Author(s): A Van den Driessche, V Eenkhoorn, L Van Gaal, C De Block

Journal: Neth J Med. 2009 Dec;67(11):376-87.

 

Type 1 diabetes mellitus (T1DM) results from autoimmune destruction of insulin-producing beta cells and is characterised by the presence of insulitis and &and beta-cell autoantibodies. Up to one third of patients develop an autoimmune polyglandular syndrome. Fifteen to 30% of T1DM ...

Last Updated: 16 Dec 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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