Synonyms
- APS 1
- Autoimmune Polyendocrinopathy Type I
- Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
- Polyglandular Autoimmune Syndrome
- PGA Syndrome Type 1
General Discussion
APS-1 is a rare and complex inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a constellation of symptoms and side-effects with potentially life-threatening endocrine gland and gastro-intestinal dysfunctions. The acronym of APS-1 stands for autoimmune polyglandular syndrome.
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 often be measured in the blood as markers for the ongoing autoimmune disease to which they correspond.
APS-1 is caused by a large number of mutations 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.
Resources
National Adrenal Diseases Foundation
505 Northern Boulevard
Great Neck, NY 11021
USA
Tel: 5164874992
Fax: 5168295710
Email: NADFmail@aol.com
Internet: http://www.medhelp.org/nadf
Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Email: hpth@hpth.org; hpth@cableone.net
Internet: http://www.hpth.org
American Autoimmune Related Diseases Association, Inc.
22100 Gratiot Avenue
Eastpointe, MI 48021-2227
Tel: (586)776-3900
Fax: (586)776-3903
Tel: (800)598-4668
Email: aarda@aarda.org
Internet: http://www.aarda.org/
Endocrine Society
The Endocrine Society
8401 Connecticut Ave
Suite 900
Chevy Chase, MD 20815
USA
Tel: 3019410200
Fax: 3019410259
Tel: 8004676663
Email: endostaff@endo-society.org
Internet: http://www.endo-society.org
APS Type1.org
18 Rolling Hill Drive
Morristown, NJ 07960
Tel: (973)886-9137
Fax: (973)734-4936
Email: todd.talarico@novartis.com or htalarico@verizon.net
Internet: http://www.apstype1.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 11/12/2008
Copyright 1991, 1999, 2007, 2008National Organization for Rare Disorders, Inc.
