Associated Papers
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
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
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene.
Agakidis C et al.
Frontiers in Pediatrics, 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
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
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
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
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
Harbuz R et al.
Prenatal Diagnosis, 2010
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
Moes N et al.
Gastroenterology, 2010
[A novel missense mutation of FOXP3 causes immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in a Chinese child].
An YF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Rubio-Cabezas O et al.
Diabetes Care, 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