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PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Juvenile myelomonocytic leukemia

IRF8 CBL
KRAS
NF1
NRAS
PTPN11


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
Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
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):
- Juvenile chronic myelomonocytic leukemia

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

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

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 -
1 MeSH reference: D054429

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



Juvenile myelomonocytic leukemia

(no data available)