The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1

Pediatr Infect Dis J. 2011 Apr;30(4):352-5. doi: 10.1097/INF.0b013e3181fdff4a.


STAT-1 (Signal Transducer and Activator of Transcription-1) is a key signaling component of interferon gamma responses. We present long-term manifestations in siblings with a mutation in the STAT1 gene, which include invasive salmonellosis, recurrent severe respiratory syncytial virus pneumonitis, and hepatosplenic mycobacterial disease, and we summarize all other reported cases with STAT-1 deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Male
  • Pneumonia / immunology
  • Pneumonia / pathology
  • Pneumonia / virology
  • Respiratory Syncytial Virus Infections / immunology*
  • Respiratory Syncytial Virus Infections / pathology
  • STAT1 Transcription Factor / deficiency*
  • Salmonella Infections / immunology*
  • Salmonella Infections / pathology
  • Siblings
  • Tuberculosis, Hepatic / immunology*
  • Tuberculosis, Hepatic / pathology
  • Tuberculosis, Splenic / immunology*
  • Tuberculosis, Splenic / pathology


  • STAT1 Transcription Factor