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Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
Features include common findings: Recurrent infections, Motor delay, and Intellectual disability; and sometimes findings: Global developmental delay. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Global developmental delay, Depressed nasal bridge, Intellectual disability |
Blood and immune system | 1 | Recurrent infections |
HELLS encodes helicase, lymphoid specific (838 aa). ATP-dependent chromatin remodeler that regulates chromatin accessibility, DNA methylation, and histone modifications. Highest expression in Cells EBV-transformed lymphocytes (30.7 TPM) and Testis (10.5 TPM).
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 has been associated with mutations in the HELLS gene on chromosome 10.
The HELLS protein participates in TGFBR3 expression and TGFBR3 transcription pathways.
HELLS is classified as a druggable target with score 26.1.
Genetic testing for HELLS is available. Testing is considered supportive for diagnosis.
Phenotype severity distribution: 3 common features.
No clinical trials have been registered for immunodeficiency-centromeric instability-facial anomalies syndrome 4.
6 publications have been identified in PubMed for immunodeficiency-centromeric instability-facial anomalies syndrome 4. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (33%), and Clinical Trial Publication (17%).
Unoki M (2025). [PMID: 40500184](https://pubmed.ncbi.nlm.nih.gov/40500184/). *Genes Genet Syst*. [Review / Meta-Analysis]
Grillo G (2025). [PMID: 39562305](https://pubmed.ncbi.nlm.nih.gov/39562305/). *Hum Mol Genet*. [Basic Science / Preclinical]
Unoki M (2024). [PMID: 38799442](https://pubmed.ncbi.nlm.nih.gov/38799442/). *Front Immunol*. [Review / Meta-Analysis]
Lullo V (2024). [PMID: 39040103](https://pubmed.ncbi.nlm.nih.gov/39040103/). *Front Immunol*. [Basic Science / Preclinical]
Shinkai A (2024). [PMID: 39142653](https://pubmed.ncbi.nlm.nih.gov/39142653/). *Nucleic Acids Res*. [Basic Science / Preclinical]
Berghuis D (2024). [PMID: 39167297](https://pubmed.ncbi.nlm.nih.gov/39167297/). *J Clin Immunol*. [Clinical Trial Publication]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC
Online Mendelian Inheritance in Man
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