Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1
Other names: Autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), Autoimmune polyglandular syndrome type 1, Whitaker syndrome,[1] or Candidiasis-hypoparathyroidism–Addison's disease syndrome,[2]
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
SymptomsChronic Mucocutaneous Candidiasis[3]
CausesDefect in AIRE gene[4]
Diagnostic methodCT scan, Histologic test[1]
TreatmentHormone replacement[5]

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.[4][6][7]

Signs and symptoms

Curdy white patches (arrow) and angular cheilitis (arrowhead)

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:[3]



Additional manifestations include

Genetics

Chr 21

Autoimmune polyendocrine syndrome type 1 is inherited in an autosomal recessive manner. It is due to a defect in the AIRE gene (which encodes a protein called autoimmune regulator) mapped to the 21q22.3 chromosome location, hence chromosome 21.[4][6][8]


Pathophysiology

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]

Diagnosis

Endoscope

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

Treatment

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:[5]

See also

References

  1. 1 2 3 4 Aldasouqi, Saleh A. (15 November 2016). "Type I Polyglandular Autoimmune Syndrome". emedicine.medscape.com. Medscape. Archived from the original on 5 April 2018. Retrieved 20 November 2020.
  2. ↑ Greenspan FS, Gardner DC (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 978-0-07-140297-2.
  3. 1 2 "Autoimmune polyglandular syndrome type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-04-12. Retrieved 2017-04-11.
  4. 1 2 3 "AIRE gene". Genetics Home Reference. Archived from the original on 2017-04-05. Retrieved 2017-04-04.
  5. 1 2 INSERM RESERVED. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Archived from the original on 2017-04-23. Retrieved 2017-04-22.
  6. 1 2 "APECED". Archived from the original on 2017-04-06. Retrieved 2017-04-04.
  7. ↑ Shoenfeld Y, Cervera R, Gershwin ME (2010-06-08). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. p. 265. ISBN 9781603272858. Archived from the original on 2021-04-25. Retrieved 2021-01-02.
  8. ↑ "Autoimmune Polyglandular Syndrome Type 1 (APS-1)". NIH: National Institute of Allergy and Infectious Diseases. Archived from the original on 2017-04-17. Retrieved 2017-04-16.
  9. ↑ De Martino L, Capalbo D, Improda N, D'Elia F, Di Mase R, D'Assante R, et al. (October 2013). "APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors". Frontiers in Immunology. 4: 331. doi:10.3389/fimmu.2013.00331. PMC 3805967. PMID 24167503.

Further reading

Classification
External resources
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