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hyper-IgE syndrome 6, autosomal dominant, with recurrent infections - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

MONDO:0957807

Overview

GeneticsAutosomal dominant · STAT6 (chr 12)

ResearchLimited published research (8 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 very common findings: Increased total eosinophil count, Atopic dermatitis, and Food allergy; and common findings: Short stature, Asthma, Recurrent skin infections, and Gastrointestinal eosinophilia and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent skin infections, B-cell lymphoma, Recurrent viral infections

Genetic Landscape

STAT6 function has not been fully characterized.

Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections is strongly associated with mutations in the STAT6 gene on chromosome 12.

Diagnosis

Genetic testing for STAT6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 very common features, 6 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 syndrome 6, autosomal dominant, with recurrent infections.

8 publications have been identified in PubMed for hyper-IgE syndrome 6, autosomal dominant, with recurrent infections. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Justiz Vaillant AA (2026). [PMID: 29763203](https://pubmed.ncbi.nlm.nih.gov/29763203/). *Unknown Journal*. [Review / Meta-Analysis]
Staines-Boone AT (2026). [PMID: 41242409](https://pubmed.ncbi.nlm.nih.gov/41242409/). *Clinical immunology (Orlando, Fla.)*. [Review / Meta-Analysis]
Taietti I (2025). [PMID: 39945219](https://pubmed.ncbi.nlm.nih.gov/39945219/). *Current opinion in allergy and clinical immunology*. [Review / Meta-Analysis]
Smith L (2025). [PMID: 40697947](https://pubmed.ncbi.nlm.nih.gov/40697947/). *The journal of allergy and clinical immunology. Global*. [Case Report / Case Series]
AlYafie R (2025). [PMID: 40040707](https://pubmed.ncbi.nlm.nih.gov/40040707/). *Frontiers in immunology*. [Review / Meta-Analysis]

Data assembled from 6 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:620532

Questions for Your Care Team

→Should I pursue genetic testing for STAT6, 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 syndrome 6, autosomal dominant, with recurrent infections

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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