National Organization for Rare Disorders, Inc.
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.
- APS 1
- Autoimmune Polyendocrinopathy Type I
- Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
- Polyglandular Autoimmune Syndrome
- PGA Syndrome Type 1
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.
National Adrenal Diseases Foundation
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Hypoparathyroidism Association, Inc.
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American Autoimmune Related Diseases Association, Inc.
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Genetic and Rare Diseases (GARD) Information Center
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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