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"Resources" on this report.
Copyright 1991, 1999, 2007, 2008
NORD is very grateful to Noel K. Maclaren, MD, Clinical Professor of Pediatrics, Weill College of Medicine of Cornell University, Director of BioSeek Endocrine Clinics, New York, NY, for his valuable assistance in the preparation of this report.
Synonyms of APS Type-1
- APS 1
- Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
- Autoimmune Polyendocrinopathy Type I
- PGA Syndrome Type 1
- Polyglandular Autoimmune Syndrome
Disorder Subdivisions
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.
Organizations related to APS Type-1
- APS Type1.org
18 Rolling Hill Drive
Morristown NJ 07960
Phone #: 973-886-9137
800 #: N/A
e-mail: htalarico1@optonline.net
Home page: http://www.apstype1.org
- American Autoimmune Related Diseases Association, Inc.
22100 Gratiot Avenue
Eastpointe MI 48021
Phone #: 586-776-3900
800 #: 800-598-4668
e-mail: aarda@aarda.org
Home page: http://www.aarda.org/
- Endocrine Society
8401 Connecticut Ave
Suite 900
Chevy Chase MD 20815
Phone #: 301-941-0200
800 #: 888-363-6274
e-mail: societyservices@endo-society.org
Home page: http://www.endo-society.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls ID 83403
Phone #: 208-524-3857
800 #: 866-213-0394
e-mail: hpth@hpth.org
Home page: http://www.hpth.org
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- National Adrenal Diseases Foundation
505 Northern Boulevard
Great Neck NY 11021
Phone #: 516-487-4992
800 #: --
e-mail: NADFmail@aol.com
Home page: http://www.nadf.us/
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