Associated Papers
Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.
Yaz I et al.
Journal of Clinical Immunology, 2025
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.
Bekis Bozkurt H et al.
Journal of 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
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
Wyatt RC et al.
Journal of Clinical Immunology, 2023
Autoimmune hepatitis in genetic syndromes: A literature review.
Capra AP et al.
World Journal of Hepatology, 2021
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
Ding Y et al.
Journal of Diabetes Investigation, 2021
Atypical Presentations of IPEX: Expect the Unexpected.
Consonni F et al.
Frontiers in Pediatrics, 2021
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
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
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
Zama D et al.
Italian Journal of Pediatrics, 2014
Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.
Baris S et al.
Journal of Clinical Immunology, 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
IPEX syndrome with membrano-proliferative nephrotic syndrome.
Rodrigo R et al.
The Ceylon Medical Journal, 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
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
FOXP3 acts as a rheostat of the immune response.
Ochs HD et al.
Immunological Reviews, 2005
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Duztas DT et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0