Autoimmune polyendocrine syndrome type 1

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Autoimmune polyendocrine syndrome type 1
Autosomal recessive - en.svg
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
Classification and external resources
Specialty endocrinology
ICD-10 E31.0
ICD-9-CM 258.1
OMIM 240300
DiseasesDB 29212
eMedicine med/1867
MeSH D016884
Orphanet 3453

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome,[1] or candidiasis-hypoparathyroidismAddison's disease syndrome,[2] 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][4][5]

Signs and symptoms[edit]

Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:[6]

Genetics[edit]

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][4][7]

Pathophysiology[edit]

In autoimmune polyendocrine syndrome type 1 mechanism one finds that the maintenance of immunological tolerance plays a role[8] 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.[1]

Diagnosis[edit]

Endoscope

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

Treatment[edit]

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:[9]

See also[edit]

References[edit]

  1. ^ a b c "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 0-07-140297-7. 
  3. ^ a b Reference, Genetics Home. "AIRE gene". Genetics Home Reference. Retrieved 2017-04-04. 
  4. ^ a b Reference, Genetics Home. "APECED". Genetics Home Reference. Retrieved 2017-04-04. 
  5. ^ Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2010-06-08). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. p. 265. ISBN 9781603272858. 
  6. ^ "Autoimmune polyglandular syndrome type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-11. 
  7. ^ "Autoimmune Polyglandular Syndrome Type 1 (APS-1) | NIH: National Institute of Allergy and Infectious Diseases". www.niaid.nih.gov. Retrieved 2017-04-16. 
  8. ^ 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. ISSN 1664-3224. PMID 24167503. doi:10.3389/fimmu.2013.00331. 
  9. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Retrieved 2017-04-22. 

Further reading[edit]

External links[edit]