Short description of the STAT1base :
The clinical syndrome is rare and is due to impaired immunity against mycobacteria. Parental cosanguinity and familial forms are frequent and the syndrome is often described as Mendelian suscepitibility to mycobacterial infection. STAT1 deficiency is associated with susceptibility to mycobacterial but not viral immunodeficiency. This variation causes a loss of GAF and ISGF3 activation but is dominant for one cellular phenotype and recessive for the other. It impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs.
Our other bioinformatics services:
SH2base - Database for pathogenic SH2 domain variations
KinMutBase - A registry of disease-causing variations in protein kinase domains
IDbases are linked to University of California Santa Cruz (UCSC) genome browser: STAT1base