Autoimmune polyendocrine syndrome pathophysiology: Difference between revisions
Jump to navigation
Jump to search
Irfan Dotani (talk | contribs) No edit summary |
|||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Autoimmune polyendocrine syndrome}} | {{Autoimmune polyendocrine syndrome}} | ||
{{CMG}} | {{CMG}}; {{AE}} | ||
{{PleaseHelp}} | |||
==Overview== | ==Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
* '''Type I:''' As opposed to type 2, this syndrome inherits in an [[autosomal recessive]] fashion and is due to a defect in ''[[Autoimmune regulator|AIRE]]'' ("''a''uto''i''mmune ''re''gulator"), a [[gene]] located on the 21st [[chromosome]]. Normal function of ''AIRE'', a [[transcription factor]], appears to be to confer [[immune tolerance]] for antigens from endocrine organs. | * '''Type I:''' As opposed to type 2, this syndrome inherits in an [[autosomal recessive]] fashion and is due to a defect in ''[[Autoimmune regulator|AIRE]]'' ("''a''uto''i''mmune ''re''gulator"), a [[gene]] located on the 21st [[chromosome]]. Normal function of ''AIRE'', a [[transcription factor]], appears to be to confer [[immune tolerance]] for antigens from endocrine organs. | ||
| Line 14: | Line 17: | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category: | [[Category:Endocrinology]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 17:02, 22 July 2016
|
Autoimmune polyendocrine syndrome Microchapters |
|
Differentiating Autoimmune polyendocrine syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Autoimmune polyendocrine syndrome pathophysiology On the Web |
|
American Roentgen Ray Society Images of Autoimmune polyendocrine syndrome pathophysiology |
|
Autoimmune polyendocrine syndrome pathophysiology in the news |
|
Directions to Hospitals Treating Autoimmune polyendocrine syndrome |
|
Risk calculators and risk factors for Autoimmune polyendocrine syndrome pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
Pathophysiology
Genetics
- Type I: As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs.
- Type 2 : It is heterogenous, occurs more often and has not been linked to one gene. Rather, patients are at a higher risk when they carry a particular HLA genotype (DQ2, DQ8 and DRB1*0404).
- XPID: This is due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.