article_metadata: Yan Long Chenghan Wang Jie Xiao Yunhua Huang Xiaoting Ling Chaoyu Huang Ying Chen Jiaqi Luo Rongheng Tang Faquan Lin Yifang Huang
article_metadata: 10.3389/fimmu.2025.1517417
article_metadata: Front Immunol
article_metadata: 2025 Jan 31:16:1517417.
article_metadata: icf syndrome 2 zbtb24 case report intravenous immunoglobulin nonsense variant
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39958354/
article_metadata: Exons / genetics Immunologic Deficiency Syndromes / genetics
article_metadata: Exons / genetics Immunologic Deficiency Syndromes / genetics Case Reports Centromere / genetics Face / abnormalities Female Homozygote Humans Phenotype Primary Immunodeficiency Diseases / genetics Repressor Proteins / genetics Sequence Deletion ZBTB24 protein, human Repressor Proteins
article_metadata: PMC11825828
article_metadata: 39958354
article_metadata: Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2
article_metadata: 2025