Autoimmune polyendocrine syndrome explained

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

Types

• Autoimmune polyendocrine syndrome type 1,^[5] 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,^[6] 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.^{[5] [7] [8] [9]}

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.^{[10] [11]}

Diagnosis

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:^[5]

• 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

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

Ketoconazole can also be used for type I under certain conditions.^[5]

See also

• Immunosuppression

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 . 10.1186/1471-2431-14-272 . 1471-2431 . 4286916 . 25361846 . free.
• Book: Shoenfeld, Yehuda . Diagnostic Criteria in Autoimmune Diseases . Cervera . Ricard . Gershwin . M. Eric . 2008 . Springer Science & Business Media . 9781603272858 . en.

External links

• • PubMed

Notes and References

1. 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 . 10.1210/jc.2002-021845 . 12843130 . free.
2. Eisenbarth GS, Gottlieb PA . 2004 . Autoimmune polyendocrine syndromes . . 350 . 20 . 2068–79 . 10.1056/NEJMra030158 . 15141045.
3. Web site: 29 June 2022 . Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology . 28 April 2024 . MEDSCAPE.
4. Web site: 8 December 2023 . Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology . 28 April 2024 . Medscape.
5. Web site: 29 June 2022 . Type I Polyglandular Autoimmune Syndrome: Practice Essentials, Background, Pathophysiology . 28 April 2024 . MEDSCAPE.
6. Web site: Autoimmune polyglandular syndrome type 2 Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . dead . https://web.archive.org/web/20170413071742/https://rarediseases.info.nih.gov/diseases/7611/index . 2017-04-13 . 2017-04-20 . rarediseases.info.nih.gov . en.
7. Web site: IPEX syndrome . live . https://web.archive.org/web/20170417070803/https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance . 2017-04-17 . 2017-04-20 . Genetics Home Reference . en.
8. Web site: Immunodysregulation, polyendocrinopathy and enteropathy X-linked Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . dead . https://web.archive.org/web/20190109072729/https://rarediseases.info.nih.gov/diseases/1850/index . 2019-01-09 . 2017-04-20 . rarediseases.info.nih.gov . en.
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 . en . 39 . 8 . 537–545 . 10.1136/jmg.39.8.537 . 0022-2593 . 1735203 . 12161590.
10. Web site: Reference . Genetics Home . IPEX syndrome . live . https://web.archive.org/web/20170417070803/https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance . 2017-04-17 . 2017-05-11 . Genetics Home Reference . en.
11. Web site: Reference . Genetics Home . FOXP3 gene . live . https://web.archive.org/web/20170417154640/https://ghr.nlm.nih.gov/gene/FOXP3#conditions . 2017-04-17 . 2017-05-11 . Genetics Home Reference . en.
12. Web site: RESERVED . INSERM US14 -- ALL RIGHTS . Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome . live . https://web.archive.org/web/20170419101112/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 . 2017-04-19 . 2017-05-11 . www.orpha.net . 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 . 10.1590/S0004-27302012000100009 . 0004-2730 . 22460196 . free.