immunodeficiency 31B

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 th

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.

Signs and symptoms

• Recurrent mycobacterial infections
• Recurrent viral infections
• HSV encephalitis

Also known as: IMD31B; autosomal recessive STAT1 deficiency; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; predisposition to severe viral infection due to STAT1 deficiency; susceptibility to viral and mycobacterial infections due to STAT1 deficiency