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Items: 1 to 20 of 182

1.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM.

J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.

2.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.

Verbsky JW, Chatila TA.

Curr Opin Pediatr. 2013 Dec;25(6):708-14. doi: 10.1097/MOP.0000000000000029. Review.

3.

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
4.

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA.

J Allergy Clin Immunol. 2015 Jan;135(1):217-27. doi: 10.1016/j.jaci.2014.10.019. Epub 2014 Nov 17.

5.

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
6.

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
7.

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
8.

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

Barzaghi F, Passerini L, Gambineri E, Ciullini Mannurita S, Cornu T, Kang ES, Choe YH, Cancrini C, Corrente S, Ciccocioppo R, Cecconi M, Zuin G, Discepolo V, Sartirana C, Schmidtko J, Ikinciogullari A, Ambrosi A, Roncarolo MG, Olek S, Bacchetta R.

J Autoimmun. 2012 Feb;38(1):49-58. doi: 10.1016/j.jaut.2011.12.009. Epub 2012 Jan 20.

9.

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG.

J Clin Invest. 2006 Jun;116(6):1713-22.

10.

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW.

J Allergy Clin Immunol. 2007 Feb;119(2):482-7. Epub 2006 Dec 27.

PMID:
17196245
11.

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
12.

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
13.

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Passerini L, Di Nunzio S, Gregori S, Gambineri E, Cecconi M, Seidel MG, Cazzola G, Perroni L, Tommasini A, Vignola S, Guidi L, Roncarolo MG, Bacchetta R.

Eur J Immunol. 2011 Apr;41(4):1120-31. doi: 10.1002/eji.201040909. Epub 2011 Mar 14.

14.

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
15.

From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome.

Blanco QuirĂ³s A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados JA.

Allergol Immunopathol (Madr). 2009 Jul-Aug;37(4):208-15. doi: 10.1016/j.aller.2009.04.002. Epub 2009 Aug 26. Review.

PMID:
19912978
16.

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.

McMurchy AN, Gillies J, Allan SE, Passerini L, Gambineri E, Roncarolo MG, Bacchetta R, Levings MK.

J Allergy Clin Immunol. 2010 Dec;126(6):1242-51. doi: 10.1016/j.jaci.2010.09.001. Epub 2010 Oct 30.

PMID:
21036387
17.

IPEX and the role of Foxp3 in the development and function of human Tregs.

Le Bras S, Geha RS.

J Clin Invest. 2006 Jun;116(6):1473-5.

18.

Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.

An YF, Xu F, Wang M, Zhang ZY, Zhao XD.

Scand J Immunol. 2011 Sep;74(3):304-9. doi: 10.1111/j.1365-3083.2011.02574.x.

19.

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.

Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, Hermine O, Vijay S, Gambineri E, Cerf-Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM.

Gastroenterology. 2007 May;132(5):1705-17. Epub 2007 Feb 23.

PMID:
17484868
20.

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M.

Pediatr Nephrol. 2009 Jun;24(6):1181-6. doi: 10.1007/s00467-009-1119-8. Epub 2009 Feb 3.

PMID:
19189134
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