Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS-1), 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.[3][5][6]

Autoimmune polyendocrine syndrome type 1
Other namesAutoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), Autoimmune polyglandular syndrome type 1, Whitaker syndrome,[1] or Candidiasis-hypoparathyroidismAddison's disease syndrome,[2]
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
CausesDefect in AIRE gene[3]
Diagnostic methodCT scan, Histologic test[1]
TreatmentHormone replacement[4]

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.[3][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.

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



In terms of diagnosis for this condition, the following methods/tests are available:[1]


Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:[4]

See also


  1. "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
  2. Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 978-0-07-140297-2.
  3. Reference, Genetics Home. "AIRE gene". Genetics Home Reference. Retrieved 2017-04-04.
  4. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Autoimmune polyendocrinopathy type 1". Retrieved 2017-04-22.
  5. 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 resources
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