Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

By R. Wildin, S. Smyk-Pearson, A. Filipovich. Journal of Medical Genetics, 2002

744 citations recorded by the source corpus.

Subfields: Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/e4f92fcc119ed956303179cbba019e0a2a2725a1

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. J. Buckner
2. Shimon Sakaguchi
3. W. Strober

In Immunology

1. Shimon Sakaguchi
2. B. Beutler
3. K. Wing
4. T. Nomura
5. M. Ono
6. K. Hoebe
7. Xin Du
8. J. Buckner

Citations in the corpus

• The immunological and genetic basis of inflammatory bowel disease (2003, background): “In addition, there is now evidence that it belongs to a separate T-cell lineage that expresses unique proteins, such as an intracellular protein known as FOXP3, the absence of which is the basis of severe autoimmune disease in both mice and human”
• Foxp3+CD25+CD4+ natural regulatory T cells in dominant self‐tolerance and autoimmune disease (2006, background): “IPEX patients frequently develop not only T1D and thyroiditis but also various other autoimmune diseases, including gastritis, hemolytic anemia, thrombocytopenic purpura, and hepatitis, within a few years after birth (31, 41).”
• Regulatory T cells exert checks and balances on self tolerance and autoimmunity (2010, background): “Furthermore, mutations in human FOXP3 are responsible for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome, providing unequivocal evidence that developmental or functional anomalies of natural T reg cells can cause autoimmune disease, allergy and IBD in human”
• The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease (2014, neutral): “Monocytes produce high levels of IL-1 in patients with CGD, and an IL-1 receptor antagonist (anakinra) has been used to treat noninfectious colitis in those patients.(47) In addition to CGD, a number of other neutrophil defects are associated with intestinal inflammation.”
• Genetic analysis of host resistance: Toll-like receptor signaling and immunity at large. (2006, background): “Interestingly, two IPEX patients were shown to have single codon mutations in the Leucine zipper domain of FOXP3( K250 and E251) (70, 71).”
• Mechanisms of impaired regulation by CD4+CD25+FOXP3+ regulatory T cells in human autoimmune diseases (2010, positive): “Evidence that an inadequate number of T Reg cells leads to autoimmunity in humans is most clearly shown in patients with IPEX, who completely lack T Reg cells as a result of a mutation in FOXP3 (Ref”