Autoimmune polyendocrine syndrome | |
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Other names | Autoimmune polyglandular syndromes (APSs) |
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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]
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 for type 1 of this condition for example, sees that the following methods/tests are available: [2]
For this condition, differential diagnosis sees that the following should be considered: [12]
Immunosuppressive therapy may be used in type I of this condition. [13]
Ketoconazole can also be used for type I under certain conditions. [2]
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