Autoimmune polyglandular syndrome type 1 (NORD)
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Autoimmune polyglandular syndrome type 1 (NORD)
Pathology
Adrenal gland disorders
Congenital adrenal hyperplasia
Primary adrenal insufficiency
Waterhouse-Friderichsen syndrome
Hyperaldosteronism
Adrenal cortical carcinoma
Cushing syndrome
Conn syndrome
Thyroid gland disorders
Thyroglossal duct cyst
Hyperthyroidism
Graves disease
Thyroid eye disease (NORD)
Toxic multinodular goiter
Thyroid storm
Hypothyroidism
Euthyroid sick syndrome
Hashimoto thyroiditis
Subacute granulomatous thyroiditis
Riedel thyroiditis
Postpartum thyroiditis
Thyroid cancer
Parathyroid gland disorders
Hyperparathyroidism
Hypoparathyroidism
Hypercalcemia
Hypocalcemia
Pancreatic disorders
Diabetes mellitus
Diabetic retinopathy
Diabetic nephropathy
Pituitary gland disorders
Hyperpituitarism
Pituitary adenoma
Hyperprolactinemia
Prolactinoma
Gigantism
Acromegaly
Hypopituitarism
Growth hormone deficiency
Pituitary apoplexy
Sheehan syndrome
Hypoprolactinemia
Constitutional growth delay
Diabetes insipidus
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Gonadal dysfunction
Precocious puberty
Delayed puberty
Premature ovarian failure
Polycystic ovary syndrome
Androgen insensitivity syndrome
Kallmann syndrome
5-alpha-reductase deficiency
Polyglandular syndromes
Autoimmune polyglandular syndrome type 1 (NORD)
Endocrine tumors
Multiple endocrine neoplasia
Pancreatic neuroendocrine neoplasms
Zollinger-Ellison syndrome
Carcinoid syndrome
Pheochromocytoma
Neuroblastoma
Opsoclonus myoclonus syndrome (NORD)
Endocrine system pathology review
Adrenal insufficiency: Pathology review
Adrenal masses: Pathology review
Hyperthyroidism: Pathology review
Hypothyroidism: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Parathyroid disorders and calcium imbalance: Pathology review
Diabetes mellitus: Pathology review
Cushing syndrome and Cushing disease: Pathology review
Pituitary tumors: Pathology review
Hypopituitarism: Pathology review
Diabetes insipidus and SIADH: Pathology review
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Assessments
Autoimmune polyglandular syndrome type 1 (NORD)
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Transcript
Content Reviewers
Rishi Desai, MD, MPHAutoimmune 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.
Regulatory T-cells are no longer produced normally either, so the body loses a second mechanism for destroying autoimmune cells.
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