Curr Opin Pediatr. 2001 Dec;13(6):533-8.

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.

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Division of Genetics and Development, University of Washington, Seattle, Washington 98195, USA. cbenet@uwashington.edu

Abstract

The rare syndrome known as IPEX (OMIM: 304930) is characterized by immune-dysfunction, polyendocrinopathy, enteropathy, and X-linked inheritance. The gene responsible for IPEX maps to Xp11.23-q13.3, a region of the X chromosome that also harbors the Wiskott-Aldrich syndrome gene ( WASP ). IPEX syndrome results from mutations of a unique DNA binding protein gene, FOXP3. Mutations invariably impair the seemingly essential forkhead domain of the protein, which is uniquely located in the carboxyl terminus, affecting protein function. In this review, we describe the identification of IPEX as a unique X-linked syndrome, the clinical features of IPEX, mutations of the immune-specific FOXP3 DNA binding protein, and bone marrow transplantation as a potential cure for the syndrome, which is usually lethal within the first year of life in affected males.

PMID:: 11753102; [PubMed - indexed for MEDLINE]

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. [Nat Genet. 2001]
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.
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Review Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. [J Med Genet. 2002]
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Wildin RS, Smyk-Pearson S, Filipovich AH. J Med Genet. 2002 Aug; 39(8):537-45.

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Cited by 18 PubMed Central articles

SOCS1 is essential for regulatory T cell functions by preventing loss of Foxp3 expression as well as IFN-{gamma} and IL-17A production. [J Exp Med. 2011]
SOCS1 is essential for regulatory T cell functions by preventing loss of Foxp3 expression as well as IFN-{gamma} and IL-17A production.
Takahashi R, Nishimoto S, Muto G, Sekiya T, Tamiya T, Kimura A, Morita R, Asakawa M, Chinen T, Yoshimura A. J Exp Med. 2011 Sep 26; 208(10):2055-67. Epub 2011 Sep 5.
Solution structure and backbone dynamics of the DNA-binding domain of FOXP1: insight into its domain swapping and DNA binding. [Protein Sci. 2011]
Solution structure and backbone dynamics of the DNA-binding domain of FOXP1: insight into its domain swapping and DNA binding.
Chu YP, Chang CH, Shiu JH, Chang YT, Chen CY, Chuang WJ. Protein Sci. 2011 May; 20(5):908-24. Epub 2011 Apr 11.
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. [Eur J Immunol. 2011]
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, et al. Eur J Immunol. 2011 Apr; 41(4):1120-31. Epub 2011 Mar 14.

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IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.

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