Autoimmune Polyglandular Syndrome Type 1

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Autoimmune Polyglandular Syndrome Type 1 is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Autoimmune polyglandular syndrome type 1 (APS1) is a rare and complex inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a constellation of symptoms including potentially life-threatening endocrine gland and gastro-intestinal dysfunctions.

A condition is said to be "autoimmune" when antibodies and immune cells are launched by the body against one or several antigens of its own tissues. Since most of the target antigens have now been discovered, the corresponding auto-antibodies can be measured in the blood as markers for the ongoing autoimmune disease to which they correspond.

APS1 is caused by mutations of both sets of the autoimmune regulator (AIRE) gene. (For further information about the AIRE gene, please go to the 'Causes' section of this report.) HLA-DR/DQ genes also play a role in predisposing to which of the component disease the patient actually develops.

Supporting Organizations

APS Type 1 Foundation

18 Rolling Hill Drive
Morristown, NJ 07960
Tel: (973)886-9137
Fax: (973)734-4936
Email: todd.talarico@apstype1.org
Website: http://www.apstype1.org

American Autoimmune & Related Diseases

22100 Gratiot Ave.
Eastpointe, MI 48021
Tel: (586)776-3900
Fax: (586)776-3903
Tel: (800)598-4668
Email: aarda@aarda.org
Website: http://www.aarda.org/

Endocrine Society

2055 L Street NW
Suite 600
Washington, DC 20036
USA
Tel: (202)971-3636
Fax: (202)736-9705
Tel: (888)363-6274
Email: societyservices@endrocrine.org
Website: http://www.endocrine.org/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hypoparathyroidism Association, Inc.

PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Fax: (205)524-3857
Tel: (866)213-0394
Email: jsanders@hypopara.org
Website: http://www.hypopara.org

National Adrenal Diseases Foundation

505 Northern Bloulevard
Great Neck, NY 11021
USA
Tel: (516)487-4992
Fax: (516)829-5710
Email: nadfsupport@nadf.us
Website: http://www.nadf.us/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  1/12/2016
Copyright  2015 National Organization for Rare Disorders, Inc.