Autoimmune polyendocrine syndrome causes: Difference between revisions
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** The mutated 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. | ** The mutated 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 is responsible for 82% of APS type 1 cases in Finland. | ** According to a Finnish study the mutation R257X 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> | *'''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> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Causes
Common Causes
The cause of autoimmune polyendocrine syndrome is poorly understood. However, autoimmune polyendocrine syndrome may be caused by:
- Congenital rubella infection
- Type 1 diabetes mellitus
- Hypoparathyroidism.
Genetic Causes
Autoimmune polyendocrine syndrome is caused by a mutation in:
- APS type I: APS type 1 is due to a defect in AIRE (autoimmune regulator), a gene located on chromosome 21.[1][2]
- The genetic locus is on short arm (p) of chromosome 21 at 21p22.3.
- The normal function of AIRE gene is to confer immune tolerance for antigens present in the body.
- The mutated 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 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.[3][4][5]
- APS type 2 patients commonly have Addison's disease, autoimmune thyroiditis and type I diabetes mellitus which themselves have multiple genes involvement and is one of the cause for the complex inheritance pattern seen in APS type 2. It has been observed that patients of APS type 2 with HLA DR3 is often introduced into the family by more than one relative.
- The highest genetic risk for APS type 2 maps to the HLA locus. Other low risk genes include CLTA4 and PTPN22.
- The strongest 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.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.