Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hyper-IgE recurrent infection syndrome 4, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgE recurrent infection syndrome 4, autosomal recessive

MONDO:0032796

Also known as:hyper-IgE recurrent infection syndrome 4B, autosomal recessiveHIES4

Overview

GeneticsAutosomal recessive · IL6ST (chr 5)

OnsetINFANTILE, CHILDHOOD

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Scaphocephaly, Increased total eosinophil count, Craniosynostosis, and Sideways curvature of the spine (scoliosis) and others.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Sideways curvature of the spine (scoliosis), Joint contracture of the hand, Thoracolumbar scoliosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IL6ST encodes interleukin 6 cytokine family signal transducer (918 aa). Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Highest expression in Cells Cultured fibroblasts (214.0 TPM) and Adipose Visceral Omentum (117.2 TPM).

Hyper-IgE recurrent infection syndrome 4, autosomal recessive is associated with mutations in the IL6ST gene on chromosome 5.

The IL6ST protein participates in JAK1,JAK2,(TYK2) bind IL6ST and CDH1,CDH11 promote stabilization of IL6ST protein pathways.

IL6ST is classified as a druggable target (Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, Kinase, and Tyrosine Kinase categories) with score 7.0.

Diagnosis

Genetic testing for IL6ST is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyper-IgE recurrent infection syndrome 4, autosomal recessive.

6 publications have been identified in PubMed for hyper-IgE recurrent infection syndrome 4, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

AlYafie R (2025). [PMID: 40040707](https://pubmed.ncbi.nlm.nih.gov/40040707/). *Frontiers in immunology*. [Review / Meta-Analysis]
Thakur V (2025). [PMID: 40666020](https://pubmed.ncbi.nlm.nih.gov/40666020/). *Frontiers in allergy*. [Review / Meta-Analysis]
Chuleerarux N (2025). [PMID: 39859044](https://pubmed.ncbi.nlm.nih.gov/39859044/). *Medicina (Kaunas, Lithuania)*. [Review / Meta-Analysis]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergologie select*. [Case Report / Case Series]
Singh N (2024). [PMID: 39666233](https://pubmed.ncbi.nlm.nih.gov/39666233/). *Immunologic research*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618523

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

hyper-IgE recurrent infection syndrome 4, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features