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 3, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgE recurrent infection syndrome 3, autosomal recessive

MONDO:0032654

Also known as:AR-HIES due to ZNF341 deficiencyAutosomal recessive HIES due to ZNF341 deficiencyAutosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency

Overview

A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.

GeneticsAutosomal recessive · ZNF341 (chr 20)

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: Recurrent skin infections and Eczematoid dermatitis; and very common findings: Increased circulating IgE concentration. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Alopecia, Dry skin, Atopic dermatitis

Genetic Landscape

ZNF341 function has not been fully characterized.

Hyper-IgE recurrent infection syndrome 3, autosomal recessive is caused by mutations in the ZNF341 gene on chromosome 20.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ZNF341 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyper-IgE recurrent infection syndrome 3, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 3, autosomal recessive.

10 publications have been identified in PubMed for hyper-IgE recurrent infection syndrome 3, autosomal recessive. Research spans Review / Meta-Analysis (80%), Diagnostic / Biomarker (10%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	8	80%

Data assembled from 7 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:618282

Orphanet

European rare disease database

Orphanet:641368

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

Kisho

hyper-IgE recurrent infection syndrome 3, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyper-IgE recurrent infection syndrome 3, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications