Autoimmune polyendocrine syndrome type 1


Autoimmune polyendocrine syndrome type 1, is a subtype of autoimmune polyendocrine syndrome in which multiple endocrine glands dysfunction as a result of 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

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:
Additional manifestations include
Autoimmune polyendocrine syndrome type 1 is a condition caused in an autosomal recessive manner. Furthermore, it is due to a defect in AIRE gene mapped to 21q22.3 chromosome location, hence chromosome 21.

Pathophysiology

In autoimmune polyendocrine syndrome type 1 mechanism one finds that the maintenance of immunological tolerance plays a role. Furthermore, upon looking at the AIRE gene, one finds at least 90 mutations in the gene, in those affected with this condition.
Autoimmune polyendocrine syndrome type 1 mechanism also indicates that affected individuals autoantibodies have considerable reactions with both interferon-omega and interferon alpha.

Diagnosis

In terms of diagnosis for this condition, the following methods/tests are available:
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is: