Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S et al.
Immunological Reviews, 2024
Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.
Leon J et al.
Cell Reports, 2023
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.
Hou AN et al.
Journal of Clinical Immunology, 2023
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
Shangaris P et al.
Bmc Medical Genomics, 2021
Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Huang Q et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome.
Shanes E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019
Functional reprogramming of regulatory T cells in the absence of Foxp3.
Charbonnier LM et al.
Nature Immunology, 2019
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
Duclaux-Loras R et al.
Clinical and Translational Gastroenterology, 2018
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hwang JL et al.
Pediatric Diabetes, 2018
FOXP3 renders activated human regulatory T cells resistant to restimulation-induced cell death by suppressing SAP expression.
Katz G et al.
Cellular Immunology, 2018
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.
Bacchetta R et al.
Annals of the New York Academy of Sciences, 2018
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Barzaghi F et al.
The Journal of Allergy and Clinical Immunology, 2018
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E et al.
Frontiers in Immunology, 2018
Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.
Shehab O et al.
Prenatal Diagnosis, 2017
Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells.
Hayatsu N et al.
Immunity, 2017
Absence of functional fetal regulatory T cells in humans causes in utero organ-specific autoimmunity.
Allenspach EJ et al.
The Journal of Allergy and Clinical Immunology, 2017
Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions.
Bin Dhuban K et al.
Science Immunology, 2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Louie RJ et al.
American Journal of Medical Genetics. Part A, 2017
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.
Reichert SL et al.
American Journal of Medical Genetics. Part A, 2016
The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Bin Dhuban K et al.
Current Opinion in Allergy and Clinical Immunology, 2015
Fetal-onset IPEX: report of two families and review of literature.
Xavier-da-Silva MM et al.
Clinical Immunology (orlando, Fla.), 2015
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014
FOXP3: genetic and epigenetic implications for autoimmunity.
Katoh H et al.
Journal of Autoimmunity, 2013
Comparative Genomics Reveals Key Gain-of-Function Events in Foxp3 during Regulatory T Cell Evolution.
Andersen KG et al.
Frontiers in Immunology, 2012
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A.
Bafunno V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular regulation of cellular immunity by FOXP3.
McMurchy AN et al.
Advances in Experimental Medicine and Biology, 2009
FOXP3 and its partners: structural and biochemical insights into the regulation of FOXP3 activity.
Zhou Z et al.
Immunologic Research, 2008
FoxP3 enhances HIV-1 gene expression by modulating NFkappaB occupancy at the long terminal repeat in human T cells.
Holmes D et al.
The Journal of Biological Chemistry, 2007
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.
Lopes JE et al.
Journal of Immunology (baltimore, Md. : 1950), 2006
FOXP3 acts as a rheostat of the immune response.
Ochs HD et al.
Immunological Reviews, 2005
Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.
Banerjee-Basu S et al.
Proteins, 2004
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
Gambineri E et al.
Current Opinion in Rheumatology, 2003
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Wildin RS et al.
Journal of Medical Genetics, 2002
IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.
Bennett CL et al.
Current Opinion in Pediatrics, 2001