hyper-IgE recurrent infection syndrome 3, autosomal recessive
Findings
No curated finding names hyper-IgE recurrent infection syndrome 3, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0032654), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Eczematoid dermatitisHPOHP:0000964
- 8 of 8 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 6 of 7 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 6 of 8 reported patients
- Methicillin-resistant Staphylococcus aureus infectionHPOHP:0032326
- 4 of 11 reported patients
- Sterile abscessHPOHP:0025616
- 4 of 11 reported patients
- Recurrent oral thrushHPOHP:0009098
- 3 of 11 reported patients
- Cutaneous abscessHPO
Show the remaining 6
- Increased total eosinophil countHPOHP:0001880
- 1 of 11 reported patients
- OsteomyelitisHPOHP:0002754
- 1 of 11 reported patients
- Pulmonic stenosisHPOHP:0001642
- 1 of 11 reported patients
- Spinal canal stenosisHPOHP:0003416
- 1 of 11 reported patients
- Atopic dermatitisHPOHP:0001047
- Recurrent mucocutaneous candidiasisHPOHP:0002728
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZNF341HGNC:15992
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: hyper-IgE recurrent infection syndrome 3, autosomal recessive
- Also called
- AR-HIES due to ZNF341 deficiencyAutosomal recessive HIES due to ZNF341 deficiencyautosomal recessive hyper-IgE syndrome due to ZNF341 deficiencyAutosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiencyHIES3