Autoimmune polyendocrine syndrome

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Autoimmune polyendocrine syndrome
PBB Protein AIRE image.jpg
Protein AIRE (from AIRE gene which causes Autoimmune polyendocrine syndrome type 1)
SpecialtyEndocrinology Edit this on Wikidata
TypesAPS type1,
APS type 2,
IPEX syndrome
Diagnostic methodEndoscopic, CT scan[1]
TreatmentDepends on type

Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs),[2] or polyendocrine autoimmune syndromes(PASs), are a heterogeneous group[3] 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.[1][4][5]



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.[10][11]


CT scan

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[1]

Differential diagnosis[edit]

For this condition, differential diagnosis sees that the following should be considered:[12]



Immunosuppressive therapy may be used in type I of this condition,[13] ketoconazole can be used for autoimmune polyendocrine syndrome type I under certain conditions[1]

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]

See also[edit]


  1. ^ a b c d e f "Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-01-06.
  2. ^ Dittmar, Manuela; Kahaly, George J. (2003). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism. 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. PMID 12843130. Retrieved 1 July 2013.
  3. ^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  4. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03.
  5. ^ "Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03.
  6. ^ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2017-04-20.
  7. ^ "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-20.
  8. ^ "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2017-04-20.
  9. ^ Wildin, R. S.; Smyk-Pearson, S.; Filipovich, A. H. (1 August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome". Journal of Medical Genetics. 39 (8): 537–545. doi:10.1136/jmg.39.8.537. ISSN 0022-2593. PMC 1735203. PMID 12161590. Retrieved 1 January 2018.
  10. ^ Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-05-11.
  11. ^ Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-05-11.
  12. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". Retrieved 2017-05-11.
  13. ^ 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. doi:10.1590/S0004-27302012000100009. ISSN 0004-2730.

Further reading[edit]

External links[edit]

External resources