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Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pediatric systemic lupus erythematosus
4 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Pediatric systemic lupus erythematosus

IL12RB1
(UniProt - OMIM)
 IRAK1
(UniProt - OMIM)
PTPN22
(UniProt - OMIM)
SPP1
(UniProt - OMIM)
STAT4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IL12RB1
(0.62)
STAT4


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1
Pediatric systemic lupus erythematosus
IRAK1 PTPN22 SPP1 STAT4



Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Pediatric systemic lupus erythematosus

Synonym(s):
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Synonym(s):
- SLE, pediatric onset
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.