What is Polyglandular autoimmune syndrome type 1?

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions.

What are symptoms of autoimmune Polyglandular syndrome?

Symptoms of this disorder may be shortness of breath, fatigue, weakness, rapid heartbeat, angina, anorexia, abdominal pain, indigestion, and possibly intermittent constipation and diarrhea. (For more information on this disorder choose “Pernicious Anemia” as your search term in the Rare Disease Database).

What causes autoimmune Polyglandular syndrome?

Type 1 polyglandular deficiency, also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), usually begins in childhood. It is caused by mutations in the AIRE gene and is inherited in an autosomal recessive pattern.

What is Polyglandular syndrome?

Polyglandular autoimmune syndromes (PAS) are rare polyendocrinopathies characterized by the failure of several endocrine glands as well as nonendocrine organs, caused by an immune-mediated destruction of endocrine tissues.

How is APECED diagnosed?

Doctors may diagnose APECED based on genetic testing and the presence of at least two of the three classic components of the syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency (see the Glossary).

How is Polyglandular syndrome treated?

Medical Care

1. This condition is treated with oral fluconazole and ketoconazole.
2. Absorption of ketoconazole may be compromised if coexistent atrophic gastritis exists.
3. Fluconazole is preferred, because it does not inhibit steroidogenesis and is less frequently associated with the development of hepatitis.

How is Apeced diagnosed?

Is there a cure for autoimmune polyglandular syndrome?

This disorder usually is gradual and permanent, and oral calcium and vitamin D usually are adequate therapy.

Is Polyglandular autoimmune syndrome?

Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.

What is treatment for APECED?

The treatment of APECED is directed at treating the specific problems: replacing the various hormones that are in short supply, giving insulin for the diabetes, treating the yeast infections, etc. However, there is no known cure for APECED.

How does autoimmune Polyglandular syndrome affect the immune system?

Autoimmune polyendocrine syndrome is a rare, inherited disease in which the immune system mistakenly attacks many of the body’s tissues and organs. The mucous membranes and adrenal and parathyroid glands are commonly affected, though other tissues and organs may become involved as well.

How common is APECED?

APECED occurs in about 1 in 90,000 to 200,000 people in most populations studied, which have been mainly in Europe. This condition occurs more frequently in certain populations, affecting about 1 in 9,000 to 25,000 people among Iranian Jews, Sardinians, and Finns.

What is autoimmune polyglandular syndrome type 1?

This information comes from the Human Phenotype Ontology (HPO) Autoimmune polyglandular syndrome type 1 is a genetic disease, which means that it is caused by one or more genes not working correctly. What is a gene?

What is the pathophysiology of autoimmune disorders?

Autoimmune disorders occur when antibodies and immune cells are launched by the body against one or several antigens of its own tissues. APS-1 is caused by changes (mutations) in the autoimmune regulator (AIRE) gene. HLA-DR/DQ genes also play a role in predisposing to which of the component autoimmune disease the patient actually develops.

What is APS1 syndrome?

Autoimmune polyglandular syndrome type 1 (APS1) is a rare and complex inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a constellation of symptoms including potentially life-threatening endocrine gland and gastro-intestinal dysfunctions.

How many mutations are there in APS-1?

To date, more than 60 mutations in the AIRE gene have been identified in people with APS-1. The AIRE gene is responsible for the production of a protein called ‘autoimmune regulator’ which is highly expressed in the thymus gland, and generates thymus derived or T lymphocytes.