Associated Papers
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
King J et al.
Cell Reports, 2025
Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
Ye L et al.
Bmc Pediatrics, 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
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
Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.
Cakir M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN et al.
Clinical Genetics, 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
IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.
Al Maawali A et al.
Case Reports in Immunology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 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
Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report.
Ge T et al.
Frontiers in Pediatrics, 2017
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
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
Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Martín-Santiago A et al.
Pediatric Dermatology, 0