Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

被引：343

作者：

Ciancanelli, Michael J. ^{[1
]}

Huang, Sarah X. L. ^{[2
,3
]}

Luthra, Priya ^{[4
]}

Garner, Hannah ^{[5
]}

Itan, Yuval ^{[1
]}

Volpi, Stefano ^{[6
,7
,8
]}

Lafaille, Fabien G. ^{[1
]}

Trouillet, Celine ^{[5
]}

Schmolke, Mirco ^{[4
]}

Albrecht, Randy A. ^{[4
,9
]}

Israelsson, Elisabeth ^{[10
]}

Lim, Hye Kyung ^{[1
]}

Casadio, Melina ^{[1
]}

Hermesh, Tamar ^{[1
]}

Lorenzo, Lazaro ^{[11
,12
]}

Leung, Lawrence W. ^{[4
]}

Pedergnana, Vincent ^{[11
,12
]}

Boisson, Bertrand ^{[1
]}

Okada, Satoshi ^{[1
,13
]}

Picard, Capucine ^{[1
,11
,12
,14
]}

Ringuier, Benedicte ^{[15
]}

Troussier, Francoise ^{[16
]}

Chaussabel, Damien ^{[10
,17
]}

Abel, Laurent ^{[1
,11
,12
]}

Pellier, Isabelle ^{[18
,19
]}

Notarangelo, Luigi D. ^{[6
,7
]}

Garcia-Sastre, Adolfo ^{[4
,9
,20
]}

Basler, Christopher F. ^{[4
]}

Geissmann, Frederic ^{[5
]}

Zhang, Shen-Ying ^{[1
,11
,12
]}

Snoeck, Hans-Willem ^{[2
,3
]}

Casanova, Jean-Laurent ^{[1
,11
,12
,21
,22
]}

机构：

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

[2] Columbia Univ, Med Ctr, Columbia Ctr Translat Immunol, New York, NY USA

[3] Columbia Univ, Med Ctr, Dept Med, New York, NY USA

[4] Icahn Sch Med Mt Sinai, Dept Microbiol, New York, NY 10029 USA

[5] Kings Coll London, CMCBI, London SE1 1UL, England

[6] Harvard Univ, Sch Med, Childrens Hosp, Div Immunol, Boston, MA USA

[7] Harvard Univ, Sch Med, Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA USA

[8] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy

[9] Icahn Sch Med Mt Sinai, Global Hlth & Emerging Pathogens Inst, New York, NY 10029 USA

[10] Virginia Mason, Benaroya Res Inst, Dept Syst Immunol, Seattle, WA USA

[11] INSERM, UMR1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France

[12] Univ Paris 05, Imagine Inst, Paris, France

[13] Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan

[14] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France

[15] Univ Hosp, Pediat Intens Care Unit, Angers, France

[16] Univ Hosp, Gen Pediat Unit, Angers, France

[17] Sidra Med & Res Ctr, Dept Syst Biol, Doha, Qatar

[18] Univ Hosp, Ctr Angers, Pediat Immunol Hematol & Oncol Unit, Angers, France

[19] CNRS, U6299, INSERM, U892, Angers, France

[20] Icahn Sch Med Mt Sinai, Dept Med, Div Infect Dis, New York, NY 10029 USA

[21] Necker Hosp Sick Children, AP HP, Pediat Immunohematol Unit, Paris, France

[22] Howard Hughes Med Inst, New York, NY USA

来源：

SCIENCE | 2015年 / 348卷 / 6233期

关键词：

RIG-I; PANDEMIC INFLUENZA; POSITIVE FEEDBACK; EXPRESSION; RNA; RECOGNITION; ACTIVATION; MUTATIONS; PROTEIN; GENES;

D O I：

10.1126/science.aaa1578

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the transcription factor interferon regulatory factor 7, in an otherwise healthy child who suffered life-threatening influenza during primary infection. In response to influenza virus, the patient's leukocytes and plasmacytoid dendritic cells produced very little type I and III interferons (IFNs). Moreover, the patient's dermal fibroblasts and induced pluripotent stem cell (iPSC)-derived pulmonary epithelial cells produced reduced amounts of type I IFN and displayed increased influenza virus replication. These findings suggest that IRF7-dependent amplification of type I and III IFNs is required for protection against primary infection by influenza virus in humans. They also show that severe influenza may result from single-gene inborn errors of immunity.

引用

页码：448 / 453

页数：6

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