Autoimmune polyendocrine syndrome

Template:Infobox medical condition (new) Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)<ref>Template:Cite journal</ref> or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group<ref>Template:Cite journal</ref> 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.<ref name=emed/><ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref><ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref>

Types

• Autoimmune polyendocrine syndrome type 1,<ref name="emed">{{#invoke:citation/CS1|citation

|CitationClass=web }}</ref> 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,<ref name="gar">{{#invoke:citation/CS1|citation

|CitationClass=web }}</ref> 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.<ref name=emed/><ref>{{#invoke:citation/CS1|citation

|CitationClass=web }}</ref><ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref><ref>Template:Cite journal</ref>

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.<ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref><ref name="fo">{{#invoke:citation/CS1|citation |CitationClass=web }}</ref>

Diagnosis

File:UPMCEast CTscan.jpg

CT scan

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:<ref name=emed/>

• Endoscopic
• CT scan
• Histologic test

Differential diagnosis

For this condition, differential diagnosis sees that the following should be considered:<ref>{{#invoke:citation/CS1|citation |CitationClass=web }}</ref>

• CD25 deficiency
• STAT5B deficiency
• Severe combined immunodeficiency
• X linked thrombocytopenia

Management

File:Ketoconazole3Dan.gif

Ketoconazole

Immunosuppressive therapy may be used in type I of this condition.<ref>Template:Cite journal</ref>

Ketoconazole can also be used for type I under certain conditions.<ref name=emed/>

See also

• Immunosuppression

Further reading

• Template:Cite journal
• Template:Cite book

External links

• Template:DiseasesDB
• PubMed