hyper-IgE recurrent infection syndrome 5, autosomal recessive
MONDO:0030069Mondo
Findings
No curated finding names hyper-IgE recurrent infection syndrome 5, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 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
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 2 of 2 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 1 of 1 reported patient
- CellulitisHPOHP:0100658
- 1 of 2 reported patients
- Cutaneous abscessHPOHP:0031292
- Decreased circulating C-reactive protein concentrationHPOHP:0032437
- Decreased class-switched memory B cell proportionHPOHP:0030388
- Inappropriate absence of feverHPOHP:0033104
- Recurrent otitis mediaHPOHP:0000403
- Recurrent skin infectionsHPOHP:0001581
Show the remaining 1
- Recurrent upper respiratory tract infectionsHPOHP:0002788
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.
- IL6RHGNC:6019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: hyper-IgE recurrent infection syndrome 5, autosomal recessive
- Also called
- HIES5