Search Ontology:
Human Disease

immunodeficiency 31B

Term ID
DOID:0111944
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 the STAT1 gene on chromosome 2q32.2. (2)
References
Ontology
Human Disease   ( DOID:0111944 )
Relationships
is a type of
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Genes Involved
Zebrafish Models