Autoimmune polyendocrine syndrome causes: Difference between revisions

Jump to navigation Jump to search
(Created page with "__NOTOC__ {{Autoimmune polyendocrine syndrome}} Please help WikiDoc by adding content here. It's easy! Click here to learn about editing. ==R...")
 
No edit summary
 
(22 intermediate revisions by 5 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Autoimmune polyendocrine syndrome}}
{{Autoimmune polyendocrine syndrome}}
{{CMG}}; {{AE}}{{Akshun}}


Please help WikiDoc by adding content here. It's easy!  Click  [[Help:How_to_Edit_a_Page|here]] to learn about editing.
==Overview==
Common causes of autoimmune polyendocrine syndrome include [[mutation]] in [[Autoimmune Regulator|AIRE]] gene, [[FOXP3]] gene and certain [[HLA]] [[alleles]] such as DR3/DQ2, DR4/DQ8 and DRB1*0404.
 
==Causes==
===Genetic Causes===
Autoimmune polyendocrine syndrome is caused by a [[mutation]] in:
* '''APS type I:''' APS type 1 is due to a defect in ''[[Autoimmune regulator|AIRE]]'' (autoimmune regulator), a [[gene]] located on [[chromosome 21]].<ref name="pmid9888391">{{cite journal |vauthors=Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K |title=Mutation analyses of North American APS-1 patients |journal=Hum. Mutat. |volume=13 |issue=1 |pages=69–74 |year=1999 |pmid=9888391 |doi=10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6 |url=}}</ref><ref name="pmid10677297">{{cite journal |vauthors=Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L |title=Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein |journal=Am. J. Hum. Genet. |volume=66 |issue=2 |pages=378–92 |year=2000 |pmid=10677297 |pmc=1288090 |doi=10.1086/302765 |url=}}</ref>
** The [[genetic]] [[locus]] is on [[short arm]] (p) of [[chromosome 21]] at 21p22.3.
** The normal function of [[Autoimmune regulator|AIRE]] gene is to confer [[immune tolerance]] for [[antigens]] present in the [[Human body|body]].
** The [[mutated]] [[Autoimmune Regulator|AIRE]] [[gene]] results in the loss of self tolerance - a process by which developing [[T cells]] with [[potential]] [[reactivity]] for self-[[antigens]] are eliminated during early differentiation in the [[thymus]].
** According to a Finnish study the [[mutation]] R257X (in [[Autoimmune Regulator|AIRE]] [[gene]]) is responsible for 82% of APS type 1 cases in Finland.
 
*'''APS type 2:''' APS type 2 is not a single [[gene]] [[disorder]] and has a complex [[inheritance]] pattern.<ref name="pmid17116738">{{cite journal |vauthors=DeVoss J, Hou Y, Johannes K, Lu W, Liou GI, Rinn J, Chang H, Caspi RR, Caspi R, Fong L, Anderson MS |title=Spontaneous autoimmunity prevented by thymic expression of a single self-antigen |journal=J. Exp. Med. |volume=203 |issue=12 |pages=2727–35 |year=2006 |pmid=17116738 |pmc=2118158 |doi=10.1084/jem.20061864 |url=}}</ref><ref name="pmid9920103">{{cite journal |vauthors=Yu L, Brewer KW, Gates S, Wu A, Wang T, Babu SR, Gottlieb PA, Freed BM, Noble J, Erlich HA, Rewers MJ, Eisenbarth GS |title=DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=1 |pages=328–35 |year=1999 |pmid=9920103 |doi=10.1210/jcem.84.1.5414 |url=}}</ref><ref name="pmid19890026">{{cite journal |vauthors=Bratland E, Skinningsrud B, Undlien DE, Mozes E, Husebye ES |title=T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency |journal=J. Clin. Endocrinol. Metab. |volume=94 |issue=12 |pages=5117–24 |year=2009 |pmid=19890026 |doi=10.1210/jc.2009-1115 |url=}}</ref>
** The highest [[genetic]] risk for APS type 2 maps to the [[HLA|HLA locus]]. Other low risk [[genes]] include CLTA4 and [[PTPN22]].
***The strongest [[Association (statistics)|association]] for APS type 2 is with HLA DR3/DQ2 (DQ2:DQA1*0501, DQB1*0201), DR4/DQ8 (DQ8:DQA1*0301, DQB1*0302), DRB1*0404 and this syndrome inherits in an [[autosomal dominant]] fashion.
 
* '''APS type 3 or''' '''XPID''': This is due to a [[mutation]] in the [[FOXP3|FOXP''3'']] gene on the [[X chromosome]].<ref name="pmid12612578">{{cite journal |vauthors=Fontenot JD, Gavin MA, Rudensky AY |title=Foxp3 programs the development and function of CD4+CD25+ regulatory T cells |journal=Nat. Immunol. |volume=4 |issue=4 |pages=330–6 |year=2003 |pmid=12612578 |doi=10.1038/ni904 |url=}}</ref><ref name="pmid16227984">{{cite journal |vauthors=Fontenot JD, Rasmussen JP, Gavin MA, Rudensky AY |title=A function for interleukin 2 in Foxp3-expressing regulatory T cells |journal=Nat. Immunol. |volume=6 |issue=11 |pages=1142–51 |year=2005 |pmid=16227984 |doi=10.1038/ni1263 |url=}}</ref>
** The [[FOXP3]] [[gene]] is located on [[chromosome]] Xp11.3-q13.3
** [[FOXP3]] plays a critical role in the function of [[CD4+]] [[CD25]]+ T regulatory [[Cells (biology)|cells]].


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Disease]]
[[Category:Endocrine system]]
[[Category:Endocrinology]]
[[Category:Overview complete]]
[[Category:Syndromes]]
[[Category:Autoimmune diseases]]
[[Category:Needs content]]


{{WikiDoc Help Menu}}
{{WH}}
{{WikiDoc Sources}}
{{WS}}

Latest revision as of 17:04, 27 October 2017

Autoimmune polyendocrine syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Autoimmune polyendocrine syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic study of choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Autoimmune polyendocrine syndrome causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Autoimmune polyendocrine syndrome causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Autoimmune polyendocrine syndrome causes

CDC on Autoimmune polyendocrine syndrome causes

Autoimmune polyendocrine syndrome causes in the news

Blogs on Autoimmune polyendocrine syndrome causes

Directions to Hospitals Treating Autoimmune polyendocrine syndrome

Risk calculators and risk factors for Autoimmune polyendocrine syndrome causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

Common causes of autoimmune polyendocrine syndrome include mutation in AIRE gene, FOXP3 gene and certain HLA alleles such as DR3/DQ2, DR4/DQ8 and DRB1*0404.

Causes

Genetic Causes

Autoimmune polyendocrine syndrome is caused by a mutation in:

References

  1. Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K (1999). "Mutation analyses of North American APS-1 patients". Hum. Mutat. 13 (1): 69–74. doi:10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6. PMID 9888391.
  2. Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L (2000). "Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein". Am. J. Hum. Genet. 66 (2): 378–92. doi:10.1086/302765. PMC 1288090. PMID 10677297.
  3. DeVoss J, Hou Y, Johannes K, Lu W, Liou GI, Rinn J, Chang H, Caspi RR, Caspi R, Fong L, Anderson MS (2006). "Spontaneous autoimmunity prevented by thymic expression of a single self-antigen". J. Exp. Med. 203 (12): 2727–35. doi:10.1084/jem.20061864. PMC 2118158. PMID 17116738.
  4. Yu L, Brewer KW, Gates S, Wu A, Wang T, Babu SR, Gottlieb PA, Freed BM, Noble J, Erlich HA, Rewers MJ, Eisenbarth GS (1999). "DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease". J. Clin. Endocrinol. Metab. 84 (1): 328–35. doi:10.1210/jcem.84.1.5414. PMID 9920103.
  5. Bratland E, Skinningsrud B, Undlien DE, Mozes E, Husebye ES (2009). "T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency". J. Clin. Endocrinol. Metab. 94 (12): 5117–24. doi:10.1210/jc.2009-1115. PMID 19890026.
  6. Fontenot JD, Gavin MA, Rudensky AY (2003). "Foxp3 programs the development and function of CD4+CD25+ regulatory T cells". Nat. Immunol. 4 (4): 330–6. doi:10.1038/ni904. PMID 12612578.
  7. Fontenot JD, Rasmussen JP, Gavin MA, Rudensky AY (2005). "A function for interleukin 2 in Foxp3-expressing regulatory T cells". Nat. Immunol. 6 (11): 1142–51. doi:10.1038/ni1263. PMID 16227984.

Template:WH Template:WS