Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome. It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene , which is located on chromosome 21 and normally confers immune tolerance.

Signs and symptoms

APS-1 tends to cause severe symptoms. These are present from early in life, usually around 3.5 years of age. == Cause ==

Cause

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. The AIRE gene may be affected by any of at least 186 mutations. APS-1 may be inherited in an autosomal recessive manner. Different mutations are more common in different geographic regions. R139X is a common mutation in Sardinia. == Pathophysiology ==

Pathophysiology

APS-1 is due to problems with immune tolerance. APS-1 causes considerable reactions with both interferon omega and interferon alpha. There may also be a reaction against interleukin 22. This leads to damage to endocrine organs. Common problems include hypercalcaemia and nephrocalcinosis (due to a lack of calcitonin from the thyroid), and pituitary problems (such as growth hormone deficiency). Antibodies against NLRP5 may lead to hypoparathyroidism. == Diagnosis ==

Diagnosis

Diagnosis of APS-1 is based on a number of tests, including endoscopy, a CT scan, a biopsy (with histological testing), and serum endocrine autoantibody screening. == Treatment ==

Treatment

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. Treatments may involve hormone therapy, The JAK-STAT inhibitor ruxolitinib is being investigated as a treatment specifically for its normalizing effect on interferon-gamma. == History ==

History

APS-1 may also be known as autoimmunity endocrinopathy candidiasis ectodermal dystrophy / dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, == See also ==

Source: Wikipedia ↗

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