Associated Papers
Efficient and sustained FOXP3 locus editing in hematopoietic stem cells as a therapeutic approach for IPEX syndrome.
Singh S et al.
Molecular Therapy. Methods & Clinical Development, 2024
FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S et al.
Immunological Reviews, 2024
IPEX syndrome from diagnosis to cure, learning along the way.
Bacchetta R et al.
The Journal of Allergy and Clinical Immunology, 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
The transcription factor FoxP3 can fold into two dimerization states with divergent implications for regulatory T cell function and immune homeostasis.
Leng F et al.
Immunity, 2022
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
Gentile M et al.
Frontiers in Immunology, 2022
[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].
Zhou F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Gene editing to induce FOXP3 expression in human CD4+ T cells leads to a stable regulatory phenotype and function.
Honaker Y et al.
Science Translational Medicine, 2020
Functional reprogramming of regulatory T cells in the absence of Foxp3.
Charbonnier LM et al.
Nature Immunology, 2019
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
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
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
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
d'Hennezel E et al.
Journal of Medical Genetics, 2012
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 2012
Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3.
Kobayashi I et al.
Clinical Immunology (orlando, Fla.), 2011
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
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
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Wildin RS et al.
Journal of Medical Genetics, 2002