Associated Papers
Inborn errors of regulatory T-cell differentiation and function.
Oktelik FB et al.
The Journal of Allergy and Clinical Immunology, 2025
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
Ye L et al.
Bmc Pediatrics, 2024
Expanding the spectrum of IPEX: from new clinical findings to novel treatments.
Voarino M et al.
Current Opinion in Allergy and Clinical Immunology, 2024
FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S et al.
Immunological Reviews, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
FOXP3 recognizes microsatellites and bridges DNA through multimerization.
Zhang W et al.
Nature, 2023
FoxP3 recognizes microsatellites and bridges DNA through multimerization.
Zhang W et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Ding Y et al.
Npj Genomic Medicine, 2023
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).
Kylat RI et al.
Journal of Applied Genetics, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
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
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Zemmour D et al.
Nature Immunology, 2021
A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.
Zhang Y et al.
Medicine, 2021
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
Ding Y et al.
Journal of Diabetes Investigation, 2021
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
Passerini L et al.
The Journal of Allergy and Clinical Immunology, 2020
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
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
PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome.
Chuva T et al.
Pediatric Nephrology (berlin, Germany), 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.
Tuijnenburg P et al.
Frontiers in Pediatrics, 2017
Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.
Sheikine Y et al.
Pediatric Nephrology (berlin, Germany), 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
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.
Savova R et al.
Case Reports in Medicine, 2014
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
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
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Rubio-Cabezas O et al.
Diabetes Care, 2009