hyper-IgE recurrent infection syndrome 4A, autosomal dominant
MONDO:0800131Mondo
Findings
No curated finding names hyper-IgE recurrent infection syndrome 4A, autosomal dominant 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 · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Increased circulating IgE concentrationHPOHP:0003212
- 11 of 11 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 10 of 11 reported patients
- Persistence of primary teethHPOHP:0006335
- 9 of 11 reported patients
- Atopic dermatitisHPOHP:0001047
- 8 of 11 reported patients
- AsthmaHPOHP:0002099
- 8 of 12 reported patients
- Joint hypermobilityHPOHP:0001382
- 7 of 11 reported patients
- BronchiectasisHPOHP:0002110
- 6 of 10 reported patients
- Pulmonary pneumatoceleHPOHP:0025419
- 6 of 11 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 6 of 11 reported patients
- ScoliosisHPOHP:0002650
- 6 of 11 reported patients
- Cutaneous abscessHPOHP:0031292
- 4 of 11 reported patients
- Increased susceptibility to fracturesHPOHP:0002659
- 4 of 11 reported patients
Show the remaining 14
- Decreased circulating IgA concentrationHPOHP:0002720
- 4 of 12 reported patients
- Recurrent skin infectionsHPOHP:0001581
- 4 of 12 reported patients
- High palateHPOHP:0000218
- 3 of 11 reported patients
- Supernumerary toothHPOHP:0011069
- 3 of 12 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 11 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 12 reported patients
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.
- IL6STHGNC:6021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of