Autoimmune polyendocrine syndrome pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Autoimmune polyendocrine syndrome are a group of autoimmune disorders against multiple (poly) endocrine organs, although non endocrine organs may be affected. Autoimmune polyendocrine syndrome is also known as polyglandular autoimmune syndrome and polyendocrine autoimmune syndrome. Autoimmune polyendocrine syndrome can be categorized into three different types namely type 1, type 2 and IPEX syndrome.

Pathophysiology

• Autoimmune polyendocrine syndrome are a group of autoimmune disorders against multiple (poly) endocrine glands, although non endocrine gland/tissues may be affected.
• Autoimmune polyendocrine syndrome is also known as polyglandular autoimmune syndrome and polyendocrine autoimmune syndrome.
• Autoimmune polyendocrine syndrome can be categorized into three different types namely type 1 {also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)}, type 2 and IPEX syndrome.
• In autoimmune polyendocrine syndrome, the involvement of endocrine glands can be either simultaneous or sequential. The common endocrine glands involved are parathyroids, adrenals, thyroid, and pancreas. However any other non endocrine gland/tissue of the body may be involved.
  • The autoimmune reaction can either be humoral or cell mediated.
  • Depending upon the inflammation and the lymphocytic infiltration of the endocrine and non-endocrine tissue, there may be partial or complete destruction of the tissue invloved.
  • In addition there may be antibodies against tryptophan hydroxylase, tyrosine hydroxylase, mitochondria in liver and steroid hormone producing cells

Genetics

• Type I: As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs. Type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of central tolerance-a process by which developing T cells with potential reactivity for self-antigens are eliminated during early differentiation in the thymus.

• Type 2 : It is heterogenous, occurs more often and has not been linked to one gene. Rather, patients are at a higher risk when they carry a particular HLA genotype (DQ2, DQ8 and DRB1*0404).

• XPID: This is due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

Pathophysiology

Pathogenesis

• The exact pathogenesis of [disease name] is not fully understood.

OR

• It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
• [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
• Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
• [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
• The progression to [disease name] usually involves the [molecular pathway].
• The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

• Autoimmune polyendocrine syndrome may be transmitted in autosomal recessive (type 1) or X linked pattern (IPEX).
• Genes involved in the pathogenesis of autoimmune polyendocrine syndrome include AIRE, FOXP3, and HLA genotype (DQ2, DQ8 and DRB1 0404).
• The development of autoimmune polyendocrine syndrome type 2 is the result of multiple genetic mutations. Patients with HLA genotype (DQ2, DQ8 and DRB1 0404) are at a higher risk.

Gross Pathology

• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].