APS Type-1

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Important

It is possible that the main title of the report APS Type-1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• APS 1
• Autoimmune Polyendocrinopathy Type I
• Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
• Polyglandular Autoimmune Syndrome
• PGA Syndrome Type 1

Disorder Subdivisions

• None

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/



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, 2008 National Organization for Rare Disorders, Inc.

Last updated:	November 12, 2008