Associated Papers
FOXP3 deficiency, from the mechanisms of the disease to curative strategies.
Borna S et al.
Immunological Reviews, 2024
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
Transcription factor defects in inborn errors of immunity with atopy.
Vaseghi-Shanjani M et al.
Frontiers in Allergy, 2023
Splicing factor SRSF1 controls autoimmune-related molecular pathways in regulatory T cells distinct from FoxP3.
Cassidy MF et al.
Molecular Immunology, 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
A Structure-Guided Delineation of FOXP3 Regulation Mechanism in IPEX.
Ma T et al.
Advances in Experimental Medicine and Biology, 2021
Atypical Presentations of IPEX: Expect the Unexpected.
Consonni F et al.
Frontiers in Pediatrics, 2021
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report.
Su N et al.
World Journal of Clinical Cases, 2020
Regulatory T Cells: the Many Faces of Foxp3.
Georgiev P et al.
Journal of Clinical Immunology, 2019
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells.
Van Gool F et al.
Immunity, 2019
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
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
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 and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.
An YF et al.
Scandinavian Journal of Immunology, 2011
[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