Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
Classification and external resources
Specialty	endocrinology
ICD-10	E31.0
ICD-9-CM	258.1
OMIM	240300
DiseasesDB	29212
eMedicine	med/1867
MeSH	D016884
Orphanet	3453
[]

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, or candidiasis-hypoparathyroidism–Addison's disease syndrome, is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular 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 (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:

Autoimmune polyendocrine syndrome type 1 is a condition caused in an autosomal recessive manner.Furthermore, it is due to a defect in AIRE gene(which helps to make a protein that is called the autoimmune regulator) mapped to 21q22.3 chromosome location, hence chromosome 21

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.

In terms of diagnosis for this condition, the following methods/tests are available:

...
Wikipedia