Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

被引：407

作者：

Bogunovic, Dusan ^{[1
]}

Byun, Minji ^{[1
]}

Durfee, Larissa A. ^{[2
]}

Abhyankar, Avinash ^{[1
]}

Sanal, Ozden ^{[3
,4
]}

Mansouri, Davood ^{[5
]}

Salem, Sandra ^{[6
]}

Radovanovic, Irena ^{[6
]}

Grant, Audrey V. ^{[7
]}

Adimi, Parisa ^{[5
]}

Mansouri, Nahal ^{[1
,5
]}

Okada, Satoshi ^{[1
]}

Bryant, Vanessa L. ^{[1
]}

Kong, Xiao-Fei ^{[1
]}

Kreins, Alexandra ^{[1
]}

Velez, Marcela Moncada ^{[1
]}

Boisson, Bertrand ^{[1
]}

Khalilzadeh, Soheila ^{[5
]}

Ozcelik, Ugur ^{[3
,4
]}

Darazam, Ilad Alavi ^{[5
]}

Schoggins, John W. ^{[8
]}

Rice, Charles M. ^{[8
]}

Al-Muhsen, Saleh ^{[9
,10
]}

Behr, Marcel ^{[11
]}

Vogt, Guillaume ^{[1
,7
]}

Puel, Anne ^{[7
]}

Bustamante, Jacinta ^{[7
,12
]}

Gros, Philippe ^{[6
]}

Huibregtse, Jon M. ^{[2
]}

Abel, Laurent ^{[1
,7
]}

Boisson-Dupuis, Stephanie ^{[1
,7
]}

Casanova, Jean-Laurent ^{[1
,7
,13
]}

机构：

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

[2] Univ Texas Austin, Inst Cellular & Mol Biol, Sect Mol Genet & Microbiol, Austin, TX 78712 USA

[3] Hacettepe Univ, Childrens Hosp, Div Immunol, TR-06100 Ankara, Turkey

[4] Hacettepe Univ, Childrens Hosp, Pediat Chest Dis Dept, TR-06100 Ankara, Turkey

[5] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis, Div Infect Dis & Clin Immunol, Tehran, Iran

[6] McGill Univ, Dept Biochem, Montreal, PQ, Canada

[7] Univ Paris 05, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch,Necker M, F-75015 Paris, France

[8] Rockefeller Univ, Lab Virol & Infect Dis, Ctr Study Hepatitis C, New York, NY 10021 USA

[9] King Saud Univ, Coll Med, Dept Pediat, Prince Naif Ctr Immunol Res, Riyadh 11211, Saudi Arabia

[10] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh 11211, Saudi Arabia

[11] McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada

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

[13] Hop Necker Enfants Malad, Pediat Hematol Immunol Unit, F-75015 Paris, France

来源：

SCIENCE | 2012年 / 337卷 / 6102期

关键词：

UBIQUITIN-LIKE PROTEIN; INFECTIOUS-DISEASES; LYMPHOCYTES; MACROPHAGES; MUTATIONS; MONOCYTES; CYTOKINE; GENETICS;

D O I：

10.1126/science.1224026

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：

ISG15 is an interferon (IFN)-alpha/beta-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with inherited ISG15 deficiency and mycobacterial, but not viral, diseases. The lack of intracellular ISG15 production and protein ISGylation was not associated with cellular susceptibility to any viruses that we tested, consistent with the lack of viral diseases in these patients. By contrast, the lack of mycobacterium-induced ISG15 secretion by leukocytes-granulocyte, in particular-reduced the production of IFN-gamma by lymphocytes, including natural killer cells, probably accounting for the enhanced susceptibility to mycobacterial disease. This experiment of nature shows that human ISGylation is largely redundant for antiviral immunity, but that ISG15 plays an essential role as an IFN-gamma-inducing secreted molecule for optimal antimycobacterial immunity.

引用

页码：1684 / 1688

页数：6

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