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2) Autoimmune polyendocrinopathy ectodermal dystrophy (APECED)is a combined autoimmune/immunodeficiency disorder triggered bydefects in expression of the gene AIRE (for the autoimmuneregulator). AIRE expression is believed to allow for the productionof a ‘shadow self’ within the thymus, allowing for multipletissue-specific antigens (e.g. insulin from the pancreas, orgonadotropin-releasing hormone from the hypothalamus) to beexpressed at very low levels by thymic stromal cells. Thus, AIREexpression strongly correlates with the principle of ‘centraltolerance’ whereby autoreactive T cells are deleted by negativeself-selection in the thymus.

Read up on APECED, and pick two of the syndrome’simmunological problems. Explain or hypothesize how these defectsarise from a failure of AIRE expression.  

(10 points, 5 points per condition)

Answer:

APECED or autoimmune polyendocrinopathy ectodermal dystrophy isan autoimmune disease that is caused by a defect in the AIREprotein. Under the normal functioning of the body, many T cells areproduced which may react negatively with the antigens of the bodyitself, thus disrupting many important and core functions requiredfor the normal functioning of the body (Gregory & Lionakis,2019). The AIRE protein functions to identify and subdue theseantibodies, and in case of any defect of AIRE, these T cellssubsequently produced will cause autoimmune diseases.

Usually, in case the AIRE protein is malfunctioning, the effectsin the form of autoimmune diseases are usually visible by earlychildhood. There are several diseases pertaining to this condition,three of the main ones are described as follows:

1. Chronic mucocutaneous candidiasis
2. Hypo para thyroidism
3. Adrenal gland insufficiency

At least two of the three aforementioned conditions must bepresent in a person at a given moment, who is suffering from someautoimmune disease.

Chronic mucocutaneous candidiasis

This is the first problem that usually appears when you happento suffer from APECED. Its symptoms include infections on nails,mouth and basically anywhere else with a mucosal lining. Thesemoist areas are usually attacked by the fungi of the candida family(e.g.: Candida Albicans) and these are called yeast infections thatare more than often of severe and chronic nature. The personsuffering often suffers from an infection in the oral cavity,esophagus and in cases of women, the vaginal cavity as well.

Hypo para thyroidism

The parathyroid glands are secreting hormones, mainly theparathyroid hormone that regulates calcium and phosphorus. Thedeficiency caused will lead to a tingling sensation in lips, musclecramps, weakness, and fatigue as well. the severe cases will seemuscular spasms and respiratory collapse.

Adrenal gland insufficiency

The adrenal glands are usually heavily effected and thereforewill case several metabolic deficiencies in the body. Loss ofappetite, short stature, yellowing of the skin, weight loss andslow blood pressure as well.

The hypothesis of how AIRE dysfunctionality occurs andits relation to the conditions above:

1. The first and foremost reason for the unavailability of AIRE,to help the normal functioning of the immune system is obviously amutation in its genetic background. AIRE has its genes at position22.3 on the long (q) arm of chromosome 21 with the exactco-ordinates of Cytogenetic Location: 21q22.3. an aberration inbase pairs will definitely cause malfunctioning of sorts(reference, 2020).

Autoimmune polyglandular failure type 1 (APS1), is a recessiveform of hypoparathyroidism which in turn is unvaryingly caused byMutations of the autoimmune regulator gene (AIRE) genethis is also called autoimmune polyendocrinopathy candidiasisectodermal dystrophy (APECED), which we have discussed in detailbefore (Ergun-Longmire & Maclaren, 2016).