DISEASES

Disease-gene associations mined from literature

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 STAT1 on chromosome 2q32.2.

Synonyms:  immunodeficiency 31B,  DOID:0111944,  IMD31B,  autosomal recessive STAT1 deficiency,  autosomal recessive immunodeficiency 31B, mycobacterial and viral infections ...