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Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.
Features include always present findings: Intellectual disability, Decreased circulating IgG concentration, and Recurrent upper respiratory tract infections; and very common findings: Motor delay and Decreased circulating total IgM. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Recurrent infections, Recurrent candida infections, Recurrent upper respiratory tract infections |
Lungs and breathing | 4 | Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections |
Brain and nerves | 3 | Intellectual disability, Global developmental delay, Depressed nasal bridge |
Head and neck | 2 | High palate, Round face |
Digestive system | 1 | Diarrhea |
Growth and development | 1 | Growth delay |
ZBTB24 function has not been fully characterized.
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 is caused by mutations in the ZBTB24 gene on chromosome 6.
Genetic testing for ZBTB24 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 2 very common features, 2 common features.
No clinical trials have been registered for immunodeficiency-centromeric instability-facial anomalies syndrome 2.
8 publications have been identified in PubMed for immunodeficiency-centromeric instability-facial anomalies syndrome 2. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Gao J (2026). [PMID: 41859080](https://pubmed.ncbi.nlm.nih.gov/41859080/). *Front Immunol*. [Case Report / Case Series]
Givol O (2026). [PMID: 41359419](https://pubmed.ncbi.nlm.nih.gov/41359419/). *Hum Mol Genet*. [Case Report / Case Series]
Roark CM (2025). [PMID: 40103177](https://pubmed.ncbi.nlm.nih.gov/40103177/). *Clin Exp Immunol*. [Case Report / Case Series]
Grillo G (2025). [PMID: 39562305](https://pubmed.ncbi.nlm.nih.gov/39562305/). *Hum Mol Genet*. [Basic Science / Preclinical]
Long Y (2025). [PMID: 39958354](https://pubmed.ncbi.nlm.nih.gov/39958354/). *Front Immunol*. [Case Report / Case Series]
Duran T (2024). [PMID: 39320531](https://pubmed.ncbi.nlm.nih.gov/39320531/). *J Clin Immunol*. [Basic Science / Preclinical]
Gao H (2024). [PMID: 39277732](https://pubmed.ncbi.nlm.nih.gov/39277732/). *Cell Mol Biol Lett*. [Basic Science / Preclinical]
Lullo V (2024). [PMID: 39040103](https://pubmed.ncbi.nlm.nih.gov/39040103/). *Front Immunol*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
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