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)
Types
- autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasisand others.
- autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
Cause
Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an
Diagnosis
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]
- CD25deficiency
- 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.[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
21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises [medical citation needed
]
See also
References
- ^ a b Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-05-11.
- ^ a b c d e f "Type I Polyglandular Autoimmune Syndrome: Practice Essentials, Background, Pathophysiology". MEDSCAPE. 29 June 2022. Retrieved 28 April 2024.
- PMID 12843130.
- PMID 15141045.
- ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology". MEDSCAPE. 29 June 2022. Retrieved 28 April 2024.
- ^ "Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology". Medscape. 8 December 2023. Retrieved 28 April 2024.
- ^ "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.
- ^ "IPEX syndrome". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-04-20.
- ^ "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.
- PMID 12161590.
- ^ Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Archived from the original on 2017-04-17. Retrieved 2017-05-11.
- ^ 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) - 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. 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
Scholia has a topic profile for Autoimmune polyendocrine syndrome.