Associated Papers
A rare case of late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome confused with IgA vasculitis nephropathy.
Che R et al.
Pediatric Nephrology (berlin, Germany), 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
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
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
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
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
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
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
Digestive histopathological presentation of IPEX syndrome.
Patey-Mariaud de Serre N et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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