Human primary immunodeficiencies of type I interferons

被引:58
作者
Jouanguy, Emmanuelle
Zhang, Shen-Ying
Chapgier, Ariane
Sancho-Shimizu, Vanessa
Puel, Anne
Picard, Capucine
Boisson-Dupuis, Stephanie
Abel, Laurent
Casanova, Jean-Laurent [1 ]
机构
[1] INSERM, Lab Human Genet Infect Dis, U550, F-75015 Paris, France
[2] Univ Paris 05, Necker Med Sch, F-75015 Paris, France
[3] Shanghai Jiao Tong Univ, Rui Jin Hosp, French Chinese Lab Genom & Life Sci, Shanghai 200025, Peoples R China
[4] Immunodeficency Ctr Necker Hosp, F-75015 Paris, France
关键词
interferons; infectious diseases; herpes virus; immune deficiency; human genetics;
D O I
10.1016/j.biochi.2007.04.016
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Type I interferons (IFN-alpha/beta and related molecules) are essential for protective immunity to experimental infection by numerous viruses in the mouse model. In recent years, human primary immunodeficiencies affecting either the production of (UNC-93B deficiency) or the response to (STAT1 and TYK2 deficiencies) these IFNs have been reported. Affected patients are highly susceptible to certain viruses. Patients with STAT1 or TYK2 deficiency are susceptible to multiple viruses, including herpes simplex virus-1 (HSV-1), whereas UNC-93B-deficient patients present isolated HSV-1 encephalitis. However, these immunological defects are not limited to type I IFN-mediated immunity. Impaired type II IFN (IFN gamma)-mediated immunity plays no more than a minor role in the pathogenesis of viral diseases in these patients, but the contribution of impaired type III IFN (IFN-lambda)-mediated immunity remains to be determined. These novel inherited disorders strongly suggest that type I IFN-mediated immunity is essential for protection against natural infections caused by several viruses in humans. (C) 2007 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:878 / 883
页数:6
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