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Autoimmune polyendocrine syndrome
Other names	Autoimmune polyglandular syndromes (APSs)
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
Specialty	Endocrinology
Types	APS type1, APS type 2, IPEX syndrome
Causes	FOXP3 gene is involved in the mechanism
Diagnostic method	Endoscopic, CT scan
Treatment	Depends on type

Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or polyendocrine autoimmune syndromes (PASs), 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, and there are a number of other diseases which involve endocrine autoimmunity.

Types

• Autoimmune polyendocrine syndrome type 1, an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
• Autoimmune polyendocrine syndrome type 2, an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
• Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.

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.

Diagnosis

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

• Endoscopic
• CT scan
• Histologic test

Differential diagnosis

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

• CD25 deficiency
• STAT5B deficiency
• Severe combined immunodeficiency
• X linked thrombocytopenia

Management

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

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

See also

• Immunosuppression

References

1. ^ Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-05-11.
2. ^ "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

• 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. doi:10.1186/1471-2431-14-272. ISSN 1471-2431. PMC 4286916. PMID 25361846.
• Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2008). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. ISBN 9781603272858.

External links

• Diseases Database (DDB): 29690
• PubMed

• Endocrine diseases
• Autoimmune diseases
• Rare syndromes
• Diseases of immune dysregulation