THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1
THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1
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DOI：
10.1097/inf.0b013e3181fdff4a
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发表时间：
2011-04-01
影响因子：
3.6
通讯作者：
Engelhard, Dan
中科院分区：
文献类型：
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作者：
Averbuch, Diana;Chapgier, Ariane;Engelhard, Dan
STAT-1（信号转导和转录激活因子-1）是干扰素γ应答的关键信号组分。我们目前的长期表现在兄弟姐妹与突变的STAT 1基因，其中包括侵袭性沙门氏菌病，复发性严重呼吸道合胞病毒肺炎，和肝脾分枝杆菌病，我们总结了所有其他报告的情况下，STAT-1缺乏症。
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.