Associated Papers
Inborn errors of regulatory T-cell differentiation and function.
Oktelik FB et al.
The Journal of Allergy and Clinical Immunology, 2025
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
FOXP3 exon 2 controls Treg stability and autoimmunity.
Du J et al.
Science Immunology, 2022
IPEX as a Consequence of Alternatively Spliced FOXP3.
Mailer RK
Frontiers in Pediatrics, 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
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
Long-term disease course in a patient with severe neonatal IPEX syndrome.
Duclaux-Loras R et al.
Clinics and Research in Hepatology and Gastroenterology, 2015
Fetal-onset IPEX: report of two families and review of literature.
Xavier-da-Silva MM et al.
Clinical Immunology (orlando, Fla.), 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
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
Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Otsubo K et al.
Clinical Immunology (orlando, Fla.), 2011
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
Harbuz R et al.
Prenatal Diagnosis, 2010
[IPEX syndrome and human Treg cells].
Otsubo K et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2010
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Rubio-Cabezas O et al.
Diabetes Care, 2009
Isoform-specific inhibition of ROR alpha-mediated transcriptional activation by human FOXP3.
Du J et al.
Journal of Immunology (baltimore, Md. : 1950), 2008
Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.
Fuchizawa T et al.
Clinical Immunology (orlando, Fla.), 2007
FOXP3 acts as a rheostat of the immune response.
Ochs HD et al.
Immunological Reviews, 2005
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Wildin RS et al.
Journal of Medical Genetics, 2002