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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

IRF8 CBL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF8
(0.63)
CBL



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
IRF8
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Synonym(s):
- MSMD due to partial IRF8 deficiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Very frequent
- Autosomal dominant inheritance
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)