• Source: Autoimmune polyendocrine syndrome

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






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

Kata Kunci Pencarian:

• Autoimmune polyendocrine syndrome
• Autoimmune polyendocrine syndrome type 1
• Autoimmune polyendocrine syndrome type 2
• Thymus
• Autoimmune polyendocrine syndrome type 3
• Addison's disease
• List of autoimmune diseases
• List of syndromes
• Autoimmune enteropathy
• Hashimoto's thyroiditis