Article

Characterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemia

2023-03-11

Abstract excerpt

<h4>ABSTRACT</h4> 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-thre...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9ed041ed-dc95-5dba-bfb4-65c852261295
DOI: 10.1101/2023.03.09.531982

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemiaDOI 10.1101/2023.03.09.531982Read

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

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

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

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

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

Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.Semantic proximity Read

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

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.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 deficiency.Semantic proximity Read