STAT1 deficiency, autosomal recessive
STAT1 deficiency, autosomal recessiveAn autosomal recessive disorder (OMIM:613796) characterised by susceptibility to severe mycobacterial and viral infections, which are often fatal.
Caused by defects of STAT1, which encodes a STAT family transcription factor that is activated by IFN-alpha, IFN-gamma, EGF, PDGF and IL6.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.