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Adrenal cortical carcinoma
Primary adrenal insufficiency
Congenital adrenal hyperplasia
Multiple endocrine neoplasia
Opsoclonus myoclonus syndrome (NORD)
Pancreatic neuroendocrine neoplasms
Androgen insensitivity syndrome
Polycystic ovary syndrome
Premature ovarian failure
Constitutional growth delay
Growth hormone deficiency
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroglossal duct cyst
Thyroid eye disease (NORD)
Toxic multinodular goiter
Euthyroid sick syndrome
Subacute granulomatous thyroiditis
Adrenal insufficiency: Pathology review
Adrenal masses: Pathology review
Cushing syndrome and Cushing disease: Pathology review
Diabetes insipidus and SIADH: Pathology review
Diabetes mellitus: Pathology review
Hyperthyroidism: Pathology review
Hypopituitarism: Pathology review
Hypothyroidism: Pathology review
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Parathyroid disorders and calcium imbalance: Pathology review
Pituitary tumors: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
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Autoimmune polyglandular syndrome type 1, also called APS type 1, or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, also called APECED, is a rare, genetically inherited condition.
Autoimmune means that the body’s immune system begins to attack its own tissues, and polyglandular means that multiple hormone-producing organs are affected.
Normally, your body should only react to things that are foreign or not-self.
This is maintained by a process called immune tolerance where only non-self-reactive B-cells and T-cells, are allowed to mature, whereas self-reactive ones aren’t.
For T-cells, this process takes place in the thymus, where a gene called AIRE, or autoimmune regulator, is expressed by thymic medullary epithelial cells.
When T-cells are developing, this gene leads to the production of thousands of the body’s proteins, and this serves as a test to see whether the T-cells react to self proteins.
If one does, that T-cell either undergoes apoptosis and dies, or it becomes a regulatory T-cell, or T-reg, that helps to eliminate other immune cells that react to self antigens.
In APS type 1, there’s a genetic mutation in AIRE that’s usually inherited in an autosomal recessive fashion.
This means that the thymic medullary epithelial cells lose the ability to display the body’s different self-proteins.
Since they can no longer test whether T-cells are self-reactive or not, the process of immune tolerance does not occur normally, and self-reactive T-cells are allowed to live.
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