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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Monocytopenia with susceptibility to infections

IL12A GATA2
IL12RB1
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POU2AF1
(0.63)
GATA2



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Monocytopenia with susceptibility to infections
GATA2



Primary biliary cirrhosis
Monocytopenia with susceptibility to infections

Synonym(s):
- Hanot syndrome

Synonym(s):
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Dentritic cell, monocyte, B and NK lymphoid deficiency
- MonoMAC
- Monocyte - B - natural killer - dendritic cell deficiency
- Monocytopenia and mycobacterial infection syndrome

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.