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Article

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

Frontiers in immunology - 1 Jan 2025

Ali Zaid Al, Al-Ali Khaled F, Bader Fatima, Alhalabiya Nancy, Sous Deema, Abulehia Ayah

Abstract excerpt

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, autosomal recessive primary immunodeficiency, with fewer than 120 cases reported worldwide. ICF type 1 (ICF1) is the most prevalent subtype. Despite its rarity, ICF1 presents a distinct set of clinical features that necessitate increased awareness, particularly in populations with high rates of consanguinity. This case...

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Topics

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Share to Child, Preschool
Share to DNA (Cytosine-5-)-Methyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methyltransferase 3B

Share to Epigenesis, Genetic

Share to Immunoglobulins, Intravenous

Share to Immunologic Deficiency Syndromes

Share to Mutation, Missense

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 41646978
DOI: 10.3389/fimmu.2025.1742293
PMCID: PMC12867814

Genes

DNMT3B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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