Autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndrome
Other namesAutoimmune polyglandular syndromes (APSs)
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
SpecialtyEndocrinology Edit this on Wikidata
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]

Types

Cause

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

CT scan

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]

Management

Ketoconazole

Immunosuppressive therapy may be used in type I of this condition.[13]

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

See also

References

  1. ^ a b Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-05-11.
  2. ^ a b c d e f "Type I Polyglandular Autoimmune Syndrome: Practice Essentials, Background, Pathophysiology". MEDSCAPE. 29 June 2022. Retrieved 28 April 2024.
  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. ^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  5. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology". MEDSCAPE. 29 June 2022. Retrieved 28 April 2024.
  6. ^ "Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology". Medscape. 8 December 2023. Retrieved 28 April 2024.
  7. ^ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-04-13. Retrieved 2017-04-20.
  8. ^ "IPEX syndrome". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-04-20.
  9. ^ "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2019-01-09. Retrieved 2017-04-20.
  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". Journal of Medical Genetics. 39 (8): 537–545. doi:10.1136/jmg.39.8.537. ISSN 0022-2593. PMC 1735203. PMID 12161590.
  11. ^ Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-05-11.
  12. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Archived from the original on 2017-04-19. Retrieved 2017-05-11.{{cite web}}: CS1 maint: numeric names: authors list (link)
  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.

Further reading