What is aps1 disease?

General Discussion. 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.

Which gene is defective in human autoimmune Polyglandular syndrome?

Autoimmune polyglandular syndrome type 1 is characterized by a triad of disorders chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. It is due to mutations in the AIRE gene and inherited in an autosomal recessive manner. Over 60 mutations have been reported to cause APS-1.

What causes Apeced?

APECED syndrome is caused by mutations in the gene AIRE. AIRE provides instructions for making a protein called the autoimmune regulator (AIRE), which helps control when other genes get “turned on,” or expressed. The AIRE protein is expressed in the thymus, a key immune organ located behind the breastbone.

What is the function of AIRE?

AIRE is a transcription factor expressed in the medulla (inner part) of the thymus. It is part of the mechanism which eliminates self-reactive T cells that would cause autoimmune disease. It exposes T cells to normal, healthy proteins from all parts of the body, and T cells that react to those proteins are destroyed.

What is PGA in medical terms?

At a Glance. Polyglandular autoimmune (PGA) syndrome (also abbreviated APS) is a disease in which the functions of multiple endocrine organs (i.e., thyroid, parathyroid, pancreatic islets, and adrenal gland) are affected by endogenous autoantibodies.

Is APS hereditary?

Genetic factors APS isn’t passed down directly from parents to children in the same way as other conditions, such as haemophilia and sickle cell anaemia. But having a family member with antiphospholipid antibodies increases the chance of your immune system also producing them.

How is APECED treated?

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 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 AIRE in medicine?

The autoimmune regulator (AIRE) is a protein that in humans is encoded by the AIRE gene. It is a 13kb gene on chromosome 21q22. 3 that has 545 amino acids. AIRE is a transcription factor expressed in the medulla (inner part) of the thymus.

What is AIRE mutation?

Abstract. The autoimmune regulator (AIRE) is a gene where mutations cause the recessively inherited disorder called autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy syndrome type 1 (APS1).

What is autoimmune polyendocrine syndrome type 1 (APS-1)?

Autoimmune polyendocrine syndrome type 1 ( APS-1 ), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome) in which multiple endocrine glands dysfunction as a result of autoimmunity.

What does APS-1 stand for?

What is polyglandular syndrome type 1?

Summary Summary. Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body’s organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease.

How is APS-1 treated?

APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is autosomal recessive. Treatment may include hormone-replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists.