Human genes for immunodeficiency 31B
Immunodeficiency 31B [DOID:0111944]
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: immunodeficiency 31B, DOID:0111944, IMD31B, autosomal recessive STAT1 deficiency, autosomal recessive immunodeficiency 31B, mycobacterial and viral infections ...