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, antifungals, immunosuppression |
Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of
Signs and symptoms
APS-1 tends to cause severe symptoms.[4] These are present from early in life, usually around 3.5 years of age.[4] Common symptoms of APS-1 include:
- Chronic mucocutaneous candidiasis.[4]
- Hypoparathyroidism.[4]
- Addison's disease.[4]
- Ectodermal dystrophy (skin, dental enamel, and nails).
APS-1 may also cause:
- Autoimmune hepatitis.[4]
- Hypogonadism.[4]
- Vitiligo.[4]
- Alopecia.[4]
- Malabsorption.
- Pernicious anemia.
- Cataract.
- Cerebellar ataxia.[5]
Cause
APS-1 is caused by a mutation in the
Different mutations are more common in different geographic regions. R139X is a common mutation in Sardinia.[4] R257* is a common mutation in Finland.[5] Both of these mutations are nonsense mutations: the asterisk and the "X" both indicate a stop codon.[7] A 13-base-pair deletion in the AIRE gene, c.967-979del13bp, has been identified in APS-1 patients in Norway, Britain[8] and North America.[9][10]
Pathophysiology
APS-1 is due to problems with
Diagnosis
Diagnosis of APS-1 is based on a number of tests, including
Treatment
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. Treatments may involve hormone therapy,[13] systemic antifungal treatments,[4][13] and immunosuppression.[13]
History
APS-1 may also be known as autoimmunity endocrinopathy candidiasis ectodermal dystrophy / dysplasia (APECED),[citation needed] autoimmune polyglandular syndrome type 1,[citation needed] Whitaker syndrome,[12] or candidiasis-hypoparathyroidism-Addison's disease syndrome.[14]
See also
References
- ^ a b "AIRE gene". Genetics Home Reference. Retrieved 2017-04-04.
- ^ a b "APECED". Retrieved 2017-04-04.
- ISBN 9781603272858.
- ^ PMID 22344197.
- ^ S2CID 3822560.
- ^ "Autoimmune Polyglandular Syndrome Type 1 (APS-1)". NIH: National Institute of Allergy and Infectious Diseases. Retrieved 2017-04-16.
- ^ a b D.N. Cooper; E.V. Ball; P.D. Stenson; A.D. Phillips; K. Evans; S. Heywood; M.J. Hayden; M.M. Chapman; M.E Mort; L. Azevedo; D.S. Millar (eds.). "AIRE". The Human Gene Mutation Database. Institute of Medical Genetics in Cardiff. Retrieved 22 August 2023.
- ^ PMID 9837820.
- PMID 27504588.
- PMID 36072346. 948350.
- PMID 24167503.
- ^ a b c d Aldasouqi, Saleh A. (15 November 2016). "Type I Polyglandular Autoimmune Syndrome". emedicine.medscape.com. Medscape. Archived from the original on 2008-12-09. Retrieved 20 November 2020.
- ^ a b c INSERM RESERVED. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Retrieved 2017-04-22.
- ISBN 978-0-07-140297-2.
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. 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. 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. PMID 23133448.