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Items: 1 to 20 of 105

1.

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Seidel MG, Rami B, Item C, Schober E, Zeitlhofer P, Huber WD, Heitger A, Bodamer OA, Haas OA.

Eur J Endocrinol. 2012 Jul;167(1):131-4. doi: 10.1530/EJE-12-0197. Epub 2012 Mar 26.

2.

Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.

Di Nunzio S, Cecconi M, Passerini L, McMurchy AN, Baron U, Turbachova I, Vignola S, Valencic E, Tommasini A, Junker A, Cazzola G, Olek S, Levings MK, Perroni L, Roncarolo MG, Bacchetta R.

Blood. 2009 Nov 5;114(19):4138-41. doi: 10.1182/blood-2009-04-214593. Epub 2009 Sep 8.

3.

[Autoimmune enteropathy in children].

Moes ND, Ruemmele FM, Rings EH.

Ned Tijdschr Geneeskd. 2011;155:A3246. Review. Dutch.

PMID:
21527058
4.

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome.

Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F, Goulet O.

Curr Opin Gastroenterol. 2008 Nov;24(6):742-8. doi: 10.1097/MOG.0b013e32830c9022. Review.

PMID:
19122524
5.

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases.

Chabchoub G, Uz E, Maalej A, Mustafa CA, Rebai A, Mnif M, Bahloul Z, Farid NR, Ozcelik T, Ayadi H.

Arthritis Res Ther. 2009;11(4):R106. doi: 10.1186/ar2759. Epub 2009 Jul 9.

6.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation.

Torgerson TR, Ochs HD.

Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):481-7. Review.

PMID:
14752330
7.

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R.

J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25.

PMID:
18951619
8.

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

Ochs HD, Gambineri E, Torgerson TR.

Immunol Res. 2007;38(1-3):112-21. Review.

PMID:
17917016
9.

FoxP3: a genetic link between immunodeficiency and autoimmune diseases.

Chang X, Zheng P, Liu Y.

Autoimmun Rev. 2006 Jul;5(6):399-402. Epub 2005 Dec 7. Review.

PMID:
16890893
10.

Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y, Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, Ochs HD, Miyawaki T.

Clin Immunol. 2011 Oct;141(1):111-20. doi: 10.1016/j.clim.2011.06.006. Epub 2011 Jul 12.

PMID:
21802372
11.

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG.

Clin Gastroenterol Hepatol. 2006 May;4(5):653-9.

PMID:
16630773
12.

Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.

Zhan H, Sinclair J, Adams S, Cale CM, Murch S, Perroni L, Davies G, Amrolia P, Qasim W.

Pediatrics. 2008 Apr;121(4):e998-1002. doi: 10.1542/peds.2007-1863. Epub 2008 Mar 3.

PMID:
18316354
13.

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.

Ozcelik T, Uz E, Akyerli CB, Bagislar S, Mustafa CA, Gursoy A, Akarsu N, Toruner G, Kamel N, Gullu S.

Eur J Hum Genet. 2006 Jun;14(6):791-7.

14.

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

d'Hennezel E, Bin Dhuban K, Torgerson T, Piccirillo CA.

J Med Genet. 2012 May;49(5):291-302. doi: 10.1136/jmedgenet-2012-100759. Review. Erratum in: J Med Genet. 2012 Dec;49(12):784. Piccirillo, Ciriaco [corrected to Piccirillo, Ciriaco A].

PMID:
22581967
15.

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.

J Child Neurol. 2008 Jan;23(1):22-5. doi: 10.1177/0883073807307077.

PMID:
18184939
16.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.

Torgerson TR, Ochs HD.

J Allergy Clin Immunol. 2007 Oct;120(4):744-50; quiz 751-2. Review.

PMID:
17931557
17.

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

Kloska A, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Węgrzyn G.

Clin Genet. 2011 Nov;80(5):459-65. doi: 10.1111/j.1399-0004.2010.01574.x. Epub 2010 Nov 10.

PMID:
21062272
18.

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development.

Gavin MA, Torgerson TR, Houston E, DeRoos P, Ho WY, Stray-Pedersen A, Ocheltree EL, Greenberg PD, Ochs HD, Rudensky AY.

Proc Natl Acad Sci U S A. 2006 Apr 25;103(17):6659-64. Epub 2006 Apr 14. Erratum in: Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9373.

19.

Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Zennaro D, Scala E, Pomponi D, Caprini E, Arcelli D, Gambineri E, Russo G, Mari A.

Clin Exp Immunol. 2012 Jan;167(1):120-8. doi: 10.1111/j.1365-2249.2011.04492.x.

20.

Non-random X chromosome inactivation in Aicardi syndrome.

Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB.

Hum Genet. 2009 Mar;125(2):211-6. doi: 10.1007/s00439-008-0615-4. Epub 2009 Jan 1.

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