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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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