Autoimmune polyendocrine syndrome

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 [1]
Diagnostic method	Endoscopic, CT scan [2]
Treatment	Depends 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

• Autoimmune polyendocrine syndrome type 1, ^[2] 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, ^[7] 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. ^{[2] [8] [9] [10]}

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]

• Endoscopic
• CT scan
• Histologic test

Differential diagnosis

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

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

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

• 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.
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