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

Rare Disease

hyper-IgE recurrent infection syndrome 4A, autosomal dominant

MONDO:0800131

Overview

An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.

GeneticsAutosomal dominant · IL6ST (chr 5)

ResearchLimited published research (2 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: Increased circulating IgE concentration; and very common findings: Recurrent pneumonia and Persistence of primary teeth. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	6	Bronchomalacia, Recurrent pneumonia, Pulmonary pneumatocele

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 4A, autosomal dominant 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: 1 always present feature, 2 very common features, 11 common 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 4A, autosomal dominant.

2 publications have been identified in PubMed for hyper-IgE recurrent infection syndrome 4A, autosomal dominant. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Ashihara K (2025). [PMID: 40526438](https://pubmed.ncbi.nlm.nih.gov/40526438/). *JCI insight*. [Basic Science / Preclinical]
Narahari NK (2024). [PMID: 39465929](https://pubmed.ncbi.nlm.nih.gov/39465929/). *Lung India : official organ of Indian Chest Society*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619752

Questions for Your Care Team

→Should I pursue genetic testing for IL6ST, and what would the results mean for my family?
→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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hyper-IgE recurrent infection syndrome 4A, autosomal dominant

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

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