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APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is found on the 21q22.3 chromosome location, hence chromosome 21. [1] [2] [6] The AIRE gene may be affected by any of at least 186 mutations. [7] APS-1 may be inherited in an autosomal recessive manner. [8]
Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) [3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group [4] of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. There are three types of APS ...
Antiphospholipid syndrome is an autoimmune disease, in which "antiphospholipid antibodies" react against proteins that bind to anionic phospholipids on plasma membranes. Anticardiolipin antibodies, β2glycoprotein 1, and lupus anticoagulant are antiphospholipid antibodies that are thought to clinically cause disease.
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the AIRE gene located on chromosome 21 and is an autosomal recessive condition. More than 100 mutations of AIRE gene have been recorded. [46] The classic triad of symptoms in APS-1 is hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. The majority ...
The autoimmune regulator (AIRE) is a protein that in humans is encoded by the AIRE gene. [5] It is a 13kbp gene on chromosome 21q22.3 that encodes 545 amino acids. [6] 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 ...
Myasthenia gravis, or MG, is a chronic autoimmune neuromuscular disorder that causes muscle weakness and fatigue. Myasthenia gravis is one of the rarest and most concerning muscular disorders ...
Catastrophic antiphospholipid syndrome (CAPS), also known as Asherson's syndrome, is a rare autoimmune disease in which widespread, intravascular clotting causes multi-organ failure. [1] The syndrome is caused by antiphospholipid antibodies that target a group of proteins in the body that are associated with phospholipids .
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. [2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 diabetes, or both. [5]