STAT1 deficiency

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 mutation 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.

Alternative names

Stat1 deficiency, complete, included


  • Defects of innate immune system, receptors and signaling components


Autosomal recessive/Autosomal dominant


+600555 Signal transducer and activator of transcription 1; STAT1

#209950 Atypical mycobacteriosis, familial


Incidence is not known.