Associated Papers
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
39958354 (PubMed )
Supplement: DataSheet2.pdf
Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases.
Eis PS et al.
Frontiers in Neurology, 2025
40761639 (PubMed )
Supplement: Data_Sheet_1.pdf
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Chromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies.
Unoki M
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
Unoki M et al.
The Journal of Clinical Investigation, 2019
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C et al.
Journal of Clinical Immunology, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.
Wu H et al.
Human Molecular Genetics, 2016
Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis.
Harnisch E et al.
Transplantation, 2016
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
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