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Article

Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.

Cellular & molecular immunology - 1 Dec 2023

Ying Zhengzhou, Hardikar Swanand, Plummer Joshua B, Hamidi Tewfik, Liu Bin, Chen Yueping, Shen Jianjun, Mu Yunxiang, McBride Kevin M, Chen Taiping

Abstract excerpt

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening...

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Identifiers

PMID: 37990035
DOI: 10.1038/s41423-023-01106-w
PMCID: PMC10687020

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Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24.PMID 37990035Read ↗

Characterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemiaSemantic proximity Read ↗

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.Semantic proximity Read ↗

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.Semantic proximity Read ↗

The ICF2 gene Zbtb24 specifically regulates the differentiation of B1 cells <i>via</i> promoting heme synthesisSemantic proximity Read ↗

Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.Semantic proximity Read ↗

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.Semantic proximity Read ↗

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiencySemantic proximity Read ↗

Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.Semantic proximity Read ↗

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.Semantic proximity Read ↗

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.Semantic proximity Read ↗

The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.Semantic proximity Read ↗

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.Semantic proximity Read ↗

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