Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Biorxiv : the Preprint Server for Biology, 2025
Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
Ye L et al.
Bmc Pediatrics, 2024
Expanding the spectrum of IPEX: from new clinical findings to novel treatments.
Voarino M et al.
Current Opinion in Allergy and 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
[Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene].
Zheng C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
FOXP3 recognizes microsatellites and bridges DNA through multimerization.
Zhang W et al.
Nature, 2023
FoxP3 recognizes microsatellites and bridges DNA through multimerization.
Zhang W et al.
Biorxiv : the Preprint Server for Biology, 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
Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.
Alzyoud R et al.
Current Rheumatology Reports, 2021
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Zemmour D et al.
Nature Immunology, 2021
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.
Cao L et al.
Endocrine, 2020
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
Passerini L et al.
The Journal of Allergy and Clinical Immunology, 2020
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
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
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
Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.
Savova R et al.
Case Reports in Medicine, 2014
FOXP3: genetic and epigenetic implications for autoimmunity.
Katoh H et al.
Journal of Autoimmunity, 2013
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 2012
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).
Grulich-Henn J et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2010
Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hashimura Y et al.
Pediatric Nephrology (berlin, Germany), 2009
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Rubio-Cabezas O et al.
Diabetes Care, 2009