AI Article Synopsis
- ICF syndrome is a rare, autosomal recessive disease linked to mutations in specific genes (DNMT3B, ZBTB24, CDCA7, HELLS) that lead to immune deficiencies and facial anomalies.
- This study examined the expression of transcription factors and cytokines in various helper T cell subsets from ICF patients and found significant reductions in these factors compared to healthy controls.
- It also identified a novel mutation in the ZBTB24 gene related to ICF2 syndrome, marking the first molecular investigation of T cell subsets in ICF syndrome.
Article Abstract
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature research, there are no studies on transcription factor and cytokine expressions of helper T cell subsets in ICF syndrome. In the study; Th1 (TBET, STAT1, STAT4), Th2 (GATA3, STAT6), Th17 (RORgt, STAT3), Treg (FoxP3, STAT5) transcription factors and the major cytokines of these cells (Th1; IFNG, Th2; IL4, Th17; IL17A-21-22, Treg; IL10, TGFβ) expressions were aimed to be evaluated by qRT-PCR. Patients (ICF3: three patients; ICF2: two patients), six heterozygous individual and five healthy controls were included in the study. All patients had hypogammaglobulinemia. Except for the CD19 cells of P2 from patients diagnosed with ICF3, the CD3, CD4, CD8, and CD19 cells in the other ICF3 patients were normal. However, the rates of these cells were low in patients with ICF2 syndrome. Factors belonging to patients' Th1, Th17 and Treg cells were significantly lower than the control. Additionally, novel mutation was detected in ZBTB24 gene (c.1121-2 A > T). Our study is the first molecular study on Th cell subsets in patients with ICF syndrome and a new mutation that causes ICF2 syndrome has been identified.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10875-024-01807-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Fatal CAEBV-Associated Vasculitis in ICF Syndrome Type 2.
J Investig Allergol Clin Immunol
November 2024
Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats.
Hum Mol Genet
November 2024
UMR7216 Epigénétique et Destin Cellulaire, CNRS, Université de Paris Cité, Epigenetics and Cell Fate, Lamarck building, 35 rue Hélène Brion, Paris F-75013, France.
Since its discovery as a causative gene of the Immunodeficiency with Centromeric instability and Facial anomalies syndrome, ZBTB24 has emerged as a key player in DNA methylation, immunity and development. By extensively analyzing ZBTB24 genomic functions in ICF-relevant mouse and human cellular models, we document here its multiple facets as a transcription factor, with key roles in immune response-related genes expression and also in early embryonic development. Using a constitutive Zbtb24 ICF-like mutant and an auxin-inducible degron system in mouse embryonic stem cells, we showed that ZBTB24 is recruited to centromeric satellite DNA where it is required to establish and maintain the correct DNA methylation patterns through the recruitment of DNMT3B.
View Article and Find Full Text PDFThe epigenetic modification of DNA methylation in neurological diseases.
Front Immunol
October 2024
Key Laboratory of Drug Targeting and Drug Delivery of Ministry of Education (MOE), Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, West China School of Pharmacy, Sichuan University, Chengdu, China.
Article Synopsis
- * DNA methylation is crucial for brain function, influencing the structure of DNA, and changes in methylation patterns are linked to various diseases, including neurological disorders and cancer.
- * A better understanding of DNA methylation mechanisms in neural development could offer insights into human biology and lead to new treatments for neurological diseases.
Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.
J Clin Immunol
September 2024
Department of Pediatric Immunology and Allergy, Medicine Faculty, Necmettin Erbakan University, Konya, Turkey.
Article Synopsis
- ICF syndrome is a rare, autosomal recessive disease linked to mutations in specific genes (DNMT3B, ZBTB24, CDCA7, HELLS) that lead to immune deficiencies and facial anomalies.
- This study examined the expression of transcription factors and cytokines in various helper T cell subsets from ICF patients and found significant reductions in these factors compared to healthy controls.
- It also identified a novel mutation in the ZBTB24 gene related to ICF2 syndrome, marking the first molecular investigation of T cell subsets in ICF syndrome.
Telomeres and immunodeficiencies.
Hum Immunol
November 2024
Department of Allergy, Asthma and Inflammation, 1st Pediatric Clinic University of Athens, Childrens' Hospital 'Agia Sophia', Athens, Greece. Electronic address:
Article Synopsis
- The immune system relies on the growth and specialization of specific lymphocytes to function effectively.
- Telomeres, protective structures at the ends of chromosomes, vary in length among different lymphocyte types and can shorten with age.
- Certain immune disorders, like dyskeratosis congenita and ICF syndrome, are linked to abnormal telomere shortening and issues with DNA repair and recombination.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!