THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1

被引：46

作者：

Averbuch, Diana ^{[1
,2
]}

Chapgier, Ariane ^{[3
,4
]}

Boisson-Dupuis, Stephanie ^{[3
,4
,5
]}

Casanova, Jean-Laurent ^{[3
,4
,5
]}

Engelhard, Dan ^{[1
,2
]}

机构：

[1] Hadassah Hebrew Univ Med Ctr, Dept Pediat, Jerusalem, Israel

[2] Hadassah Hebrew Univ Med Ctr, Pediat AIDS Ctr, Jerusalem, Israel

[3] INSERM, Lab Human Genet Infect Dis, Necker Branch, U980, Paris, France

[4] Univ Paris 05, Necker Med Sch, Paris, France

[5] Rockefeller Univ, Rockefeller Branch, Lab Human Genet Infect Dis, New York, NY 10021 USA

来源：

PEDIATRIC INFECTIOUS DISEASE JOURNAL | 2011年 / 30卷 / 04期

关键词：

mycobacterial diseases; Mycobacterium; Salmonella; RSV; interleukin 12/23-interferon gamma (IFN gamma) pathway; STAT1; DEFICIENCY; IMMUNITY; DISEASE; HUMANS; IFN;

D O I：

10.1097/INF.0b013e3181fdff4a

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：352 / 355

页数：4

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