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

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

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 Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises ^{[ medical citation needed]}

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

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