hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
MONDO:0957807Mondo
Findings
No curated finding names hyper-IgE syndrome 6, autosomal dominant, with recurrent infections yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- Atopic dermatitisHPOHP:0001047
- 15 of 16 reported patients
- Food allergyHPOHP:0500093
- 15 of 16 reported patients
- Increased total eosinophil countHPOHP:0001880
- 15 of 16 reported patients
- AsthmaHPOHP:0002099
- 11 of 16 reported patients
- Gastrointestinal eosinophiliaHPOHP:0032064
- 10 of 16 reported patients
- Anaphylactic shockHPOHP:0100845
- 9 of 16 reported patients
- Recurrent skin infectionsHPOHP:0001581
- 7 of 16 reported patients
- Short statureHPOHP:0004322
- 7 of 16 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 5 of 16 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 4 of 16 reported patients
- OsteoporosisHPOHP:0000939
- 3 of 16 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 2 of 16 reported patients
Show the remaining 3
- B-cell lymphomaHPOHP:0012191
- 1 of 16 reported patients
- Eosinophilic infiltration of the esophagusHPOHP:0410151
- Increased circulating IgE concentrationHPOHP:0003212
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.
- STAT6HGNC:11368
- Strong · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of