Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.
Yaz I et al.
Journal of Clinical Immunology, 2025
Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
Ye L et al.
Bmc Pediatrics, 2024
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.
Bekis Bozkurt H et al.
Journal of Clinical Immunology, 2024
IPEX syndrome from diagnosis to cure, learning along the way.
Bacchetta R et al.
The Journal of Allergy and Clinical Immunology, 2024
A case report of IPEX syndrome in Palestine: detailed family identification and breadth of disorders with the same defect.
Malhis L et al.
Frontiers in Pediatrics, 2024
FOXP3 recognizes microsatellites and bridges DNA through multimerization.
Zhang W et al.
Nature, 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
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 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
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Yu R et al.
Frontiers in Pediatrics, 2022
Anti-voltage-Gated Potassium Channel (VGKC) Antibodies and Acquired Neuromyotonia in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Lined (IPEX) Syndrome.
Moseley N et al.
Journal of Clinical Immunology, 2021
Myelodysplastic Syndrome in a Patient with IPEX Syndrome.
Toyama D et al.
Journal of Clinical Immunology, 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
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
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.
Yamauchi T et al.
Pediatric Diabetes, 2019
Unusual and early onset IPEX syndrome: a case report.
Doğruel D et al.
The Turkish Journal of Pediatrics, 2019
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
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
FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes.
Kwon HK et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Three-Dimensional Domain Swapping Changes the Folding Mechanism of the Forkhead Domain of FoxP1.
Medina E et al.
Biophysical Journal, 2016
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
Seidel MG et al.
Journal of Clinical Immunology, 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
DNA binding by FOXP3 domain-swapped dimer suggests mechanisms of long-range chromosomal interactions.
Chen Y et al.
Nucleic Acids Research, 2015
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
Zama D et al.
Italian Journal of Pediatrics, 2014
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
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
Lampasona V et al.
Plos One, 2013
Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.
Seidel MG et al.
European Journal of Endocrinology, 2012
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
Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells.
Bandukwala HS et al.
Immunity, 2011
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.
Passerini L et al.
European Journal of Immunology, 2011
Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.
McMurchy AN et al.
The Journal of Allergy and Clinical Immunology, 2010
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
Harbuz R et al.
Prenatal Diagnosis, 2010
Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.
Di Nunzio S et al.
Blood, 2009
Severe gastritis in an insulin-dependent child with an IPEX syndrome.
Scaillon M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Gambineri E et al.
The Journal of Allergy and Clinical Immunology, 2008
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
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