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

@article{Averbuch2011TheCS,
  title={The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.},
  author={Diana Averbuch and Ariane L. A. Chapgier and St{\'e}phanie Boisson-Dupuis and J. Hugo P{\'e}rez Casanova and Dan Engelhard},
  journal={The Pediatric infectious disease journal},
  year={2011},
  volume={30 4},
  pages={352-5}
}
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. 
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