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DO Term : immunodeficiency 31B [DOID:0111944] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • IMD31B,
  • autosomal recessive immunodeficiency 31B, mycobacterial and viral infections,
  • 613796,
  • OMIM:613796,
  • susceptibility to viral and mycobacterial infections due to STAT1 deficiency,
  • ORDO:391311,
  • autosomal recessive STAT1 deficiency,
  • predisposition to severe viral infection due to STAT1 deficiency
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