Associated Papers
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Givol O et al.
Human Molecular Genetics, 2026
In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Roark CM et al.
Clinical and Experimental Immunology, 2025
Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.
Long Y et al.
Frontiers in Immunology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.
Lullo V et al.
Frontiers in Immunology, 2024
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Autoimmune hepatitis in genetic syndromes: A literature review.
Capra AP et al.
World Journal of Hepatology, 2021
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
Aktar S et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2019
Structural basis of specific DNA binding by the transcription factor ZBTB24.
Ren R et al.
Nucleic Acids Research, 2019
A functional assay to classify ZBTB24 missense variants of unknown significance.
Wu H et al.
Human Mutation, 2019
Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).
Sogkas G et al.
Diseases (basel, Switzerland), 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
von Bernuth H et al.
Orphanet Journal of Rare Diseases, 2014
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H et al.
Journal of Human Genetics, 2013
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
Cerbone M et al.
American Journal of Medical Genetics. Part A, 2012
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC et al.
American Journal of Human Genetics, 2011