Autoimmune Polyglandular Syndrome Type 1
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Autoimmune Polyglandular Syndrome Type 1 is not the name you expected.
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.
APS Type 1 Foundation
- 18 Rolling Hill Drive
- Morristown, NJ 07960
- Tel: (973)886-9137
- Fax: (973)734-4936
- Email: firstname.lastname@example.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: email@example.com
- Website: http://www.aarda.org/
- 2055 L Street NW
- Suite 600
- Washington, DC 20036
- Tel: (202)971-3636
- Fax: (202)736-9705
- Tel: (888)363-6274
- Email: firstname.lastname@example.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: email@example.com
- Website: http://www.hypopara.org
National Adrenal Diseases Foundation
- 505 Northern Bloulevard
- Great Neck, NY 11021
- Tel: (516)487-4992
- Fax: (516)829-5710
- Email: firstname.lastname@example.org
- 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.
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