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hyper-IgE recurrent infection syndrome 5, autosomal recessive (HIES5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgE recurrent infection syndrome 5, autosomal recessive

MONDO:0030069

Also known as:HIES5

Overview

GeneticsAutosomal recessive · IL6R (chr 1)

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: Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE concentration, and Increased circulating interleukin 6 concentration and others; and common findings: Cellulitis. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Atopic dermatitis, Recurrent skin infections

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.

IL6R encodes interleukin 6 receptor (468 aa). Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Highest expression in Muscle Skeletal (67.2 TPM) and Whole Blood (52.7 TPM).

Hyper-IgE recurrent infection syndrome 5, autosomal recessive has limited evidence linking it to mutations in the IL6R gene on chromosome 1.

The IL6R protein participates in IL6R gene expression is enhanced by CEBPA and Expression of STAT3-upregulated plasma membrane proteins pathways.

IL6R is classified as a druggable target (Clinically Actionable, Druggable Genome, and External Side Of Plasma Membrane categories) with score 12.0.

Diagnosis

Genetic testing for IL6R is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 common feature.

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 5, autosomal recessive.

10 publications have been identified in PubMed for hyper-IgE recurrent infection syndrome 5, autosomal recessive. Research spans Review / Meta-Analysis (60%) and Case Report / Case Series (40%).

Research Type	Count	% of Total
Research summaries	6	60%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618944

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?

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Kisho

hyper-IgE recurrent infection syndrome 5, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyper-IgE recurrent infection syndrome 5, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications