Medicine:Autoimmune polyendocrine syndrome

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Autoimmune polyendocrine syndrome
Other namesAutoimmune polyglandular syndromes (APSs)
PBB Protein AIRE image.jpg
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
TypesAPS type1,
APS type 2,
IPEX syndrome
CausesFOXP3 gene is involved in the mechanism [1]
Diagnostic methodEndoscopic, CT scan[2]
TreatmentDepends on type

Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)[3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group[4] 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, and there are a number of other diseases which involve endocrine autoimmunity.[2][5][6]



Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.[11][1]


Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[2]

Differential diagnosis

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 also be used for type I under certain conditions.[2]

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

See also


  1. 1.0 1.1 Reference, Genetics Home. "FOXP3 gene" (in en). 
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-01-06. 
  3. 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. 
  4. "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. 2004. doi:10.1056/NEJMra030158. PMID 15141045. 
  5. Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. 
  6. Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. 
  7. "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). 
  8. "IPEX syndrome" (in en). 
  9. "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). 
  10. 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" (in en). Journal of Medical Genetics 39 (8): 537–545. doi:10.1136/jmg.39.8.537. ISSN 0022-2593. PMID 12161590. 
  11. Reference, Genetics Home. "IPEX syndrome" (in en). 
  12. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome" (in en). 
  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. PMID 22460196. 

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