hyper-IgE recurrent infection syndrome 4, autosomal recessive
MONDO:0032796Mondo
Findings
No curated finding names hyper-IgE recurrent infection syndrome 4, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- ArthropathyHPOHP:0003040
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient · Infantile onset
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- ClubbingHPOHP:0001217
- 1 of 1 reported patient
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- Eczematoid dermatitisHPOHP:0000964
- 1 of 1 reported patient
- 1 of 1 reported patient · Childhood onset
- Food allergyHPOHP:0500093
- 1 of 1 reported patient · Infantile onset
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient · Infantile onset
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 1 reported patient · Infantile onset
- 1 of 1 reported patient
- Increased total eosinophil countHPOHP:0001880
- 2 of 2 reported patients
- Joint contracture of the handHPOHP:0009473
- 1 of 1 reported patient
Show the remaining 8
- KeratitisHPOHP:0000491
- 1 of 1 reported patient
- MacroglossiaHPOHP:0000158
- 1 of 1 reported patient
- Neurodevelopmental delayHPOHP:0012758
- 1 of 1 reported patient · Infantile onset
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- 1 of 1 reported patient · Infantile onset
- ScaphocephalyHPOHP:0030799
- 1 of 1 reported patient
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 recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hyper-IgE recurrent infection syndrome 4, autosomal recessive
- Also called
- hyper-IgE recurrent infection syndrome 4B, autosomal recessive