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Article

ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations.

Genetic testing and molecular biomarkers - 1 Jul 2026

Lei Yan, Wang Yanchun, Liu Xiaoning, Li Li

Abstract excerpt

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial dysmorphism. We report four Chinese pediatric patients with ICF syndrome diagnosed between 2018 and 2021. All patients presented with recurrent infections due to hypogammaglobulinemia. Whole-exome sequencing identified four novel...

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Source

Identifiers

PMID: 42339842
DOI: 10.1177/19450265261464229

Genes

CDCA7
HELLS
ZBTB24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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