immunodeficiency 31B (DOID:0111944)
Alliance: disease page
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
Alt IDs: OMIM:613796, ORDO:391311
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.