Autoimmune polyendocrine syndrome
|Autoimmune polyendocrine syndrome|
|Protein AIRE(from AIRE gene which causes Autoimmune polyendocrine syndrome type 1)|
|Classification and external resources|
Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs), or polyendocrine autoimmune syndromes, are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected.There are three types of APS or (in terms that mean the same thing) three APSs, and there are a number of other diseases which have endocrine autoimmunity.
- Autoimmune polyendocrine syndrome type 1 
- Autoimmune polyendocrine syndrome type 2
- The third form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, called IPEX (syndrome). This is due to mutation of the FOXP3 gene on the X chromosome. Most develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.
Each "type" of this condition has a different cause, in terms of IPEX syndrome is inherited in males by an x-linked recessive process. FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.
Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:
For this condition, differential diagnosis sees that the following should be considered:
Immunosupressive therapy may be used in type I of this condition, ketoconazole can be used for autoimmune polyendocrine syndrome type I under certain conditions The component diseases are managed as usual, the challenge is to detect the possibility of any of the syndromes, and to anticipate other manifestations. For example, in a person with known Type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises[medical citation needed]
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- Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. PMID 15141045. doi:10.1056/NEJMra030158.
- "Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-01-06.
- "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03.
- "Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03.
- "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-20.
- Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-20.
- "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-20.
- Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-05-11.
- Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-05-11.
- RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Retrieved 2017-05-11.
- Weiler, Fernanda Guimarães; Dias-da-Silva, Magnus R.; Lazaretti-Castro, Marise (2012-02-01). "Autoimmune polyendocrine syndrome type 1: case report and review of literature". Arquivos Brasileiros de Endocrinologia & Metabologia. 56 (1): 54–66. ISSN 0004-2730. doi:10.1590/S0004-27302012000100009.
- Improda, Nicola; Capalbo, Donatella; Cirillo, Emilia; Cerbone, Manuela; Esposito, Andrea; Pignata, Claudio; Salerno, Mariacarolina (1 November 2014). "Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature". BMC pediatrics. 14: 272. ISSN 1471-2431. doi:10.1186/1471-2431-14-272. Retrieved 20 April 2017.
- Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2008). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. ISBN 9781603272858.