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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
WHIM syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
WHIM syndrome

STAT1
(UniProt - OMIM)
 CXCR4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.52)
CXCR4


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1
WHIM syndrome
CXCR4



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
WHIM syndrome

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Synonym(s):
- Warts-hypogammaglobulinemia-infections-myelokathexis
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536697
No signs/symptoms info available.