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

By C. Bennett, J. Christie, F. Ramsdell, M. Brunkow, P. Ferguson, L. Whitesell, T. Kelly, F. Saulsbury, P. Chance, H. Ochs. Nature Genetics, 2001

3,545 citations recorded by the source corpus.

Subfields: Gastroenterology, Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/53262d4494f0bcec0927f6ddd532a27e4d8e3407

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In Gastroenterology

1. Dan R. Littman
2. Shimon Sakaguchi

In Genetics

1. S. Rosenberg
2. Shimon Sakaguchi
3. E. Shevach
4. Dan R. Littman
5. J. O’Shea
6. Alexander Y. Rudensky
7. J. Bluestone

In Immunology

1. Alexander Y. Rudensky
2. Shimon Sakaguchi
3. Steven Z. Josefowicz
4. S. Rosenberg
5. Dan R. Littman
6. J. Bluestone
7. C. Hsieh
8. J. O’Shea

Citations in the corpus

• Differentiation of Effector CD4 T Cell Populations (2010, neutral): “Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.”
• A two-step process for thymic regulatory T cell development. (2008, background): “Genetic ablation of Treg cell development resulting from Foxp3 deficiency leads to overwhelming autoimmunity and early death in both humans (Bennett et al., 2001) and mice (Fontenot et al., 2003).”
• The PD-1 Pathway in Tolerance and Autoimmunity (2010, background): “In humans, a rare X-linked disorder, immune dysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome, results from mutations in the Foxp3 gene (65, 68).”
• Forkhead transcription factors: key players in development and metabolism. (2002, background): “Defects due to mutations in FOXE1 (thyroid agenesis, cleft palate, and choanal atresia) or FOXN1 (alopecia and T cell immunodeficiency) have an autosomal recessive inheritance (Clifton-Bligh et al., 1998; Frank et al., 1999), and FOXP3 mutations [immune dysregulation, polyendocrinopathy, enteropathy”
• Neuropilin-1 distinguishes natural and inducible regulatory T cells among regulatory T cell subsets in vivo (2012, background): “2012 Vol. 209 No. 10 1713-1722 www.jem.org/cgi/doi/10.1084/jem.20120822 1713 Brief Definit ive Report Foxp3+ regulatory T (T reg) cells constitute a population of CD4+ T cells that plays a key role in maintaining immune homeostasis and tolerance (Bennett et al., 2001).”
• Enterocolitis in patients with cancer after antibody blockade of cytotoxic T-lymphocyte-associated antigen 4. (2006, background): “Mice lacking Treg cells (through a germline disruption of the FoxP3 gene) and patients with the IPEX syndrome (immune-dysfunction, polyendocrinopathy, enteropathy, and X-linked inheritance) who have a mutation in FoxP3, both show autoimmune disease.(26-28) Furthermore, transfer of CD25 CD4 T cells i”
• T cell receptor stimulation-induced epigenetic changes and Foxp3 expression are independent and complementary events required for Treg cell development. (2012, background): “Mutations or deletion of the gene that encodes Foxp3 cause severe autoimmune and/or inflammatory disease in humans and mice, due to the failure in generating Treg cells (Bennett et al., 2001; Fontenot et al., 2003).”