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
- polyglandular autoimmune syndrome
- PGA syndrome type 1
- autoimmune polyendocrinopathy type 1
- autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome
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.
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