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

Frontiers in immunology - 1 Jan 2026

Gao Jie, Jiang Xiaoling, Tian Ye, Zhai Rui, Chen Yan, Guo Jinling, Wu Liulin, Hu Mei

Abstract excerpt

Background: Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome, commonly known as ICF syndrome, is a rare multisystem autosomal recessive disorder. ICF syndrome is primarily classified into five subtypes: ICF1, ICF2, ICF3, ICF4, and ICFX. Among these, the ICF2 subtype is mainly caused by pathogenic variant in the ZBTB24. Case presentation: A 28-year-old female patient was admitted to our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41859080
DOI: 10.3389/fimmu.2026.1703785
PMCID: PMC12996111

Genes

ZBTB24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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