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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 7 free, full-text research articles on human participants. First 3 results:

Induction of thyroid remission using rituximab in a patient with type 3 autoimmune polyglandular syndrome including Graves' disease and type 1 diabetes mellitus: a case report.
 

Author(s): Akira Kurozumi, Yosuke Okada, Tadashi Arao, Manabu Narisawa, Keiichi Torimoto, Sunao Yamamoto, Yoshiya Tanaka

Journal: Endocr. J.. 2015 ;62(1):69-75.

 

Rituximab (RTX) is a monoclonal antibody that targets the B-cell-specific CD20 antigen. Recent reports indicate that RTX is effective against type 1 diabetes mellitus (T1DM) and hematologic as well as autoimmune diseases. Other studies have indicated that RTX therapy leads to the ...

Last Updated: 6 Mar 2015

Go To URL
[Screening for autoimmune polyglandular syndrome in a cohort of patients with type 1 diabetes mellitus].
 

Author(s): Sofia Gouveia, Leonor Gomes, Cristina Ribeiro, Francisco Carrilho

Journal: Arq Bras Endocrinol Metabol. 2013 Dec;57(9):733-8.

 

To characterize a cohort of patients with type 1 diabetes mellitus (T1DM) on the presence of other autoimmune disorders that could establish the diagnosis of autoimmune polyglandular syndrome (APS).

Last Updated: 9 Jan 2014

Go To URL
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

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.