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