Autoimmune polyendocrine syndrome type 1 Article

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
Autoimmune polyendocrine syndrome type 1
Autosomal recessive - en.svg
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
Specialty Endocrinology  Edit this on Wikidata
CausesDefect in AIRE gene [1]
Diagnostic methodCT scan, Histologic test [2]
TreatmentHormone replacement [3]

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, [2] or candidiasis- hypoparathyroidismAddison's disease syndrome, [4] is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome) in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance. [1] [5] [6]

Signs and symptoms

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following: [7]

Additional manifestations include


Chr 21

Autoimmune polyendocrine syndrome type 1 is a condition caused in an autosomal recessive manner. Furthermore, it is due to a defect in AIRE gene (which helps to make a protein that is called the autoimmune regulator) mapped to 21q22.3 chromosome location, hence chromosome 21. [1] [5] [8]


In autoimmune polyendocrine syndrome type 1 mechanism one finds that the maintenance of immunological tolerance plays a role. [9] Furthermore, upon looking at the AIRE gene, one finds at least 90 mutations in the gene, in those affected with this condition.[ medical citation needed]

Autoimmune polyendocrine syndrome type 1 mechanism also indicates that affected individuals autoantibodies have considerable reactions with both interferon-omega and interferon alpha. [2]



In terms of diagnosis for this condition, the following methods/tests are available: [2]


Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is: [3]

See also


  1. ^ a b c Reference, Genetics Home. "AIRE gene". Genetics Home Reference. Retrieved 2017-04-04.
  2. ^ a b c d "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
  3. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Autoimmune polyendocrinopathy type 1". Retrieved 2017-04-22.
  4. ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN  978-0-07-140297-2.
  5. ^ a b Reference, Genetics Home. "APECED". Genetics Home Reference. Retrieved 2017-04-04.
  6. ^ Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2010-06-08). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. p. 265. ISBN  9781603272858.
  7. ^ "Autoimmune polyglandular syndrome type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2017-04-11.
  8. ^ "Autoimmune Polyglandular Syndrome Type 1 (APS-1) | NIH: National Institute of Allergy and Infectious Diseases". Retrieved 2017-04-16.
  9. ^ De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; D’Elia, Federica; Di Mase, Raffaella; D’Assante, Roberta; D’Acunzo, Ida; Pignata, Claudio; Salerno, Mariacarolina (2013-10-23). "APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors". Frontiers in Immunology. 4: 331. doi: 10.3389/fimmu.2013.00331. ISSN  1664-3224. PMC  3805967. PMID  24167503.

Further reading

External links

External resources