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

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

Author information

1
Department of Pediatrics, Hadassah-Hebrew University Medical Center, Ein-Kerem, Jerusalem, Israel.

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.

PMID:
20962705
DOI:
10.1097/INF.0b013e3181fdff4a
[Indexed for MEDLINE]

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