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

Keywords

Immune dysregulation, Enteropathy, Biology, Genetics, FOXP3

References

• Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresiaRoderick Clifton‐Bligh, John M. Wentworth, Peter Heinz — 1998
• Cellular and molecular characterization of the scurfy mouse mutant.Lisa B. Clark, Mark W. Appleby, Mary E. Brunkow — 1999
• The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward — 1998
• Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouseMary E. Brunkow, Eric W. Jeffery, Kathryn A. Hjerrild — 2001
• An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.Berkley R. Powell, Neil R.M. Buist, Peter Stenzel — 1982
• X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.Craig L. Bennett, Ritsuko Yoshioka, Hidenori Kiyosawa — 2000
• Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.Polly J. Ferguson, Susan H. Blanton, Frank T. Saulsbury — 2000
• Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25Farideh Mirzayans, Douglas B. Gould, Elise Héon — 2000
• Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.Alan J. Mears, Tim Jordan, Farideh Mirzayans — 1998
• The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.Mary F. Lyon, Jo Peters, P. H. Glenister — 1990
• Effects of Geldanamycin, a Heat-Shock Protein 90-Binding Agent, on T Cell Function and T Cell Nonreceptor Protein Tyrosine Kinases1Peter D. Yorgin, Steven D. Hartson, Abdul M. Fellah — 2000
• Unified nomenclature for the winged helix/forkhead transcription factors.Klaus H. Kaestner, Walter Knöchel, Daniel E. Martínez — 2000

Cited by

• Regulatory T cells and regulation of allergic airway disease.Helen Martin, Christian Taube — 2012
• Review Article FoxP3: A Life beyond Regulatory T CellsYang Liu, Pan Zheng — 2009
• ON T CELL FATE DECISIONS: RETINOL, METABOLISM AND ITREG DIFFERENTIATIONGavin I. Ellis — 2013
• Can unresolved infection precipitate autoimmune disease?Daniel JB Marks, N Mitchison, Anthony W. Segal — 2006
• Experimental models of mucosal inflammation.Warren Strober, Ivan J. Fuss — 2006
• A well adapted regulatory contrivance: regulatory T cell development and the forkhead family transcription factor Foxp3Charles S. Liebman — 2005
• Treatment of severe autoimmune disease by stem-cell transplantationT.C. Chen, Paul W. Pomeroy — 2005
• Clinical application of human CD4+CD25+ regulatory Tcells for the treatment of inflammatory bowel diseasesRefani Indah Sunurini — 2005
• The FOXP1 Transcription Factor is Expressed in the Majority of Follicular Lymphomas but is Rarely Expressed in Classical and Lymphocyte Predominant Hodgkin’s LymphomaOle Amundsen, Jonathan Sinker, Matthew Bishop — 2005
• Reduced circulating CD4+CD25+ cell populations in Guillain-Barré syndrome.雄一郎 板倉 — 2007
• X Chromosome Inactivation and Female Predisposition to AutoimmunityWto Multilateral — 2008
• IL-27 inhibits the development of regulatory T cells via STAT3.Enric Calvet, Iñaki Andrés, Carme Bosch i Vila — 2008
• T regulatory cells: aid or hindrance in the clearance of disease?Esteban Alemán Ruiz — 2007
• Clinical implications of a molecular genetic classification of monogenic β-cell diabetesAlberto Fernández González — 2008
• Are pediatric autoimmune diseases primarily genetic diseases?Ricardo Estévez Goytre — 2008
• CD4+FoxP3+ regulatory T cells confer infectious tolerance in a TGF-β–dependent mannerStuart R. Cohn — 2008
• Cell‐cell‐neighborhood relations in tissue sections—A quantitative model for tissue cytometryR Christie — 2009
• Retinoid signals and Th17-mediated pathology.Christian Klemann, Ben J. E. Raveney, Shinji Oki — 2009
• Tunable Chemokine Production by Antigen Presenting Dendritic Cells in Response to Changes in Regulatory T Cell Frequency in Mouse Reactive Lymph NodesН. Н. Макаров, В. Е. Семашкин — 2009
• Disturbed regulatory T cell homeostasis in multiple sclerosis.Jorge Isauro, Rionda Ramírez — 2010

Related papers

• Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome : a rare cause of food allergy and enteropathy : quarterly case reportClaudia L. Gray — 2014
• A Mystery Diagnosis: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked RecessiveMelissa E. Gischel, Carolyn E Beck, Margot Hall — 2009
• Х-сцепленные иммунная дисрегуляция, полиэндокринопатия и энтеропатия (IPEX-синдром): описание клинического случая и краткий обзор литературыYulia V. Tikhonovich, E. E. Petryaikina, Irina G. Rybkina — 2014
• Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at OnsetGülay Karagüzel, Recep Polat, Mehtap Haktanır Abul — 2021
• Two case reports about immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and literature reviewWenfang Dong, Qing Cao, Jian Wang — 2018
• An Adolescent Suspected by IPEX Syndrome: Immune Dysregulation, Polyendocrinopathy, Enteropathy X-LinkedO Belei — 2015
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• Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome highlights potential pitfalls of molecular testingAllison Kirchner, Isabelle M. Sanchez, Alice Zalan — 2022