Autoimmune polyendocrine syndrome

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]

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

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