OBO ID: DOID:0111944
Term Name: immunodeficiency 31B Search Ontology:
Synonyms:
  • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
  • autosomal recessive STAT1 deficiency
  • IMD31B
  • predisposition to severe viral infection due to STAT1 deficiency
  • susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Definition: A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2. (2)
References:
Ontology: Human Disease   (DOID:0111944)
OTHER immunodeficiency 31B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAT1 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None