Definition:
Autoimmune polyendocrinopathy syndrome, type I is a very unusual autoimmune disorder distinguished by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED). Theh disorder is also called as candidiasis-hypoparathyroidism-Addison's disease-syndrome following its major features:
* Mild immune deficiency that leads to mucosal and cutaneous infections alog with candida yeasts. The function of the spleen is also reduced or referred to as asplenism.
* Parathyroid gland's autoimmune dysfunction that leads to hypocalcemia and the adrenal gland.
Other ailments that are related:
hypothyroidism
hypogonadism and infertility
vitiligo (depigmentation of the skin)
alopecia (baldness)
malabsorption
pernicious anemia
chronic active (autoimmune) hepatitis
In contrast to type 2, this type takes over an autosomal recesive style and it is because of a defect in AIRE or autoimmune regulator a gene that is seen on the 21st chromosomes. A transcription factor, normal function AIRE exhibits to display immune lenience for antigens from endocrine organs.
Symptoms and Signs:
Blood calcium level is low
Blood phosphate level is low
Hypoparathyroidism
Lack/absence of tooth enamel
Hair loss
Piece of de-pigmented skin
Corneal dystropathy
Sexual growth fails
Yeast infection in mouth
Yeast infection in nails
Mal-absorption
Disease in the liver
Insulin-dependent diabetes
Complications:
Autoantibodies
Immune deficiency
Adrenal cortex insufficiency
Malabsorption syndrome
:
autoimmunepolyendocrinopathysyndrometypei
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