STAT1 deficiency, autosomal recessive

STAT1 deficiency, autosomal recessive

An autosomal recessive disorder (OMIM:613796) characterised by susceptibility to severe mycobacterial and viral infections, which are often fatal.

Molecular pathology
Caused by defects of STAT1, which encodes a STAT family transcription factor that is activated by IFN-alpha, IFN-gamma, EGF, PDGF and IL6.