Immunodeficiency 31B is an autosomal dominant disorder caused by mutations of the STAT1 gene and is characterized by prolonged mycobacterial and viral infections.
|Hereditary susceptibility to infections|
|Immunodeficiency-centromeric instability-facial anomalies syndrome|
Yamamoto K et. al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.[^]
Dupuis S et. al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.[^]
Chapgier A et. al. (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.[^]
Kong XF et. al. (2010) A novel form of human STAT1 deficiency impairing early but not late responses to interferons.[^]