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 | |
 | |
| Symptoms | Chronic Mucocutaneous Candidiasis[3] |
| Causes | Defect in AIRE gene[4] |
| Diagnostic method | CT scan, Histologic test[1] |
| Treatment | Hormone 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
Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:[3]
- Chronic mucocutaneous candidiasis
- Hypoparathyroidism
- Autoimmune adrenal insufficiency
- Ectodermal Dystrophy (skin, dental enamel, and nails)
Additional manifestations include
Genetics
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.[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
In terms of diagnosis for this condition, the following methods/tests are available:[1]
- Endoscopic
- CT scan
- Serum endocrine autoantibody screen
- Histologic test
Treatment
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:[5]
- Hormone replacement
- Systemic antifungal treatment
- Immunosuppressive treatment
See also
References
- ↑ 1.0 1.1 1.2 1.3 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.
- ↑ Greenspan FS, Gardner DC (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 978-0-07-140297-2.
- ↑ 3.0 3.1 "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.
- ↑ 4.0 4.1 4.2 "AIRE gene". Genetics Home Reference. Archived from the original on 2017-04-05. Retrieved 2017-04-04.
- ↑ 5.0 5.1 INSERM RESERVED. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Archived from the original on 2017-04-23. Retrieved 2017-04-22.
- ↑ 6.0 6.1 "APECED". Archived from the original on 2017-04-06. Retrieved 2017-04-04.
- ↑ 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.
- ↑ "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.
- ↑ 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
- De Martino L, Capalbo D, Improda N, Lorello P, Ungaro C, Di Mase R, et al. (1 January 2016). "Novel Findings into AIRE Genetics and Functioning: Clinical Implications". Frontiers in Pediatrics. 4: 86. doi:10.3389/fped.2016.00086. PMC 4992815. PMID 27597936.
- Peterson P, Pitkänen J, Sillanpää N, Krohn K (March 2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and Experimental Immunology. 135 (3): 348–57. doi:10.1111/j.1365-2249.2004.02384.x. PMC 1808970. PMID 15008965.
- Capalbo D, De Martino L, Giardino G, Di Mase R, Di Donato I, Parenti G, et al. (2012). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation". International Journal of Endocrinology. 2012: 353250. doi:10.1155/2012/353250. PMC 3485503. PMID 23133448.
External links
- PubMed Archived 2020-02-10 at the Wayback Machine
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