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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency

IRAK4 IKBKG
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRAK4
(0.63)
IKBKG



Citations in the biomedical literature:


Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
IRAK4
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency

Synonym(s):
- IRAK4 deficiency

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

Very frequent
- Anomalies of the lymphatic system
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Polynuclear cells / neutrophils anomalies / neutropenia



Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)