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Items: 1 to 20 of 118

1.

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SH.

J Clin Endocrinol Metab. 2003 Dec;88(12):6034-9.

PMID:
14671208
2.

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
3.

Clinical and molecular findings in IPEX syndrome.

Myers AK, Perroni L, Costigan C, Reardon W.

Arch Dis Child. 2006 Jan;91(1):63-4.

4.

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.

5.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD.

Nat Genet. 2001 Jan;27(1):20-1.

PMID:
11137993
6.

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
7.

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.

Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF.

Immunogenetics. 2001 Aug;53(6):435-9.

PMID:
11685453
8.

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).

Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K.

J Med Genet. 2001 Dec;38(12):874-6. No abstract available.

9.

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
10.

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R, Lespinasse J, Boulet S, Francannet C, Creveaux I, Benkhelifa M, Jouk PS, Lunardi J, Ray PF.

Prenat Diagn. 2010 Nov;30(11):1072-8. doi: 10.1002/pd.2613.

PMID:
20842625
11.

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
12.
14.

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
15.

IPEX and FOXP3: clinical and research perspectives.

Wildin RS, Freitas A.

J Autoimmun. 2005;25 Suppl:56-62. Epub 2005 Oct 21. Review.

PMID:
16243487
16.

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Zama D, Cocchi I, Masetti R, Specchia F, Alvisi P, Gambineri E, Lima M, Pession A.

Ital J Pediatr. 2014 Oct 18;40:68. doi: 10.1186/s13052-014-0068-4.

17.
18.

IPEX as a result of mutations in FOXP3.

van der Vliet HJ, Nieuwenhuis EE.

Clin Dev Immunol. 2007;2007:89017. doi: 10.1155/2007/89017. Review.

19.

[IPEX syndrome--case report].

Radlović N, Janić D, Sajić S, Janković S, Jesić M, Leković Z, Petrović R.

Srp Arh Celok Lek. 2008 Sep-Oct;136(9-10):538-41. Serbian.

20.

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.

Baris S, Schulze I, Ozen A, Karakoç Aydıner E, Altuncu E, Karasu GT, Ozturk N, Lorenz M, Schwarz K, Vraetz T, Ehl S, Barlan IB.

J Clin Immunol. 2014 Aug;34(6):601-6. doi: 10.1007/s10875-014-0059-7. Epub 2014 Jun 12.

PMID:
24916357

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