Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

被引：208

作者：

Bustamante, Jacinta ^{[1
,2
]}

Arias, Andres A. ^{[3
]}

Vogt, Guillaume ^{[4
]}

Picard, Capucine ^{[1
,2
,5
,6
]}

Blancas Galicia, Lizbeth ^{[1
,2
,7
]}

Prando, Carolina ^{[4
]}

Grant, Audrey V. ^{[1
,2
]}

Marchal, Christophe C. ^{[3
]}

Hubeau, Marjorie ^{[1
,2
]}

Chapgier, Ariane ^{[1
,2
]}

de Beaucoudrey, Ludovic ^{[1
,2
]}

Puel, Anne ^{[1
,2
]}

Feinberg, Jacqueline ^{[1
,2
]}

Valinetz, Ethan ^{[3
]}

Janniere, Lucile ^{[1
,2
]}

Besse, Celine ^{[8
]}

Boland, Anne ^{[8
]}

Brisseau, Jean-Marie ^{[9
]}

Blanche, Stephane ^{[6
]}

Lortholary, Olivier ^{[10
]}

Fieschi, Claire ^{[1
,2
,11
]}

Emile, Jean-Francois ^{[12
,13
]}

Boisson-Dupuis, Stephanie ^{[1
,2
,4
]}

Al-Muhsen, Saleh ^{[14
]}

Woda, Bruce ^{[15
]}

Newburger, Peter E. ^{[16
,17
]}

Condino-Neto, Antonio ^{[18
]}

Dinauer, Mary C. ^{[3
]}

Abel, Laurent ^{[1
,2
,4
]}

Casanova, Jean-Laurent ^{[1
,2
,4
,6
,14
]}

机构：

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

[2] Paris Descartes Univ, Necker Med Sch, Paris, France

[3] Indiana Univ Sch Med, Wells Ctr Pediat Res, Dept Pediat, Indianapolis, IN USA

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

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

[6] Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, Paris, France

[7] Natl Inst Pediat, Unit Immunodeficiency, Mexico City, DF, Mexico

[8] Natl Genotyping Ctr, Evry, France

[9] Nantes Hosp, Dept Internal Med, Nantes, France

[10] Hop Necker Enfants Malad, AP HP, Dept Infect Dis, Paris, France

[11] Hop St Louis, Adult Immunopathol Unit, Paris, France

[12] Hop Ambroise Pare, INSERM, U602, Dept Pathol, Boulogne, France

[13] Versailles St Quentin En Yvelines Univ, Boulogne, France

[14] King Saud Univ, Coll Med, Prince Naif Ctr Immunol Res, Dept Pediat, Riyadh 11461, Saudi Arabia

[15] Univ Massachusetts, Sch Med, Dept Pathol, Worcester, MA 01605 USA

[16] Univ Massachusetts, Sch Med, Dept Pediat, Worcester, MA USA

[17] Univ Massachusetts, Sch Med, Dept Canc Biol, Worcester, MA USA

[18] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil

来源：

NATURE IMMUNOLOGY | 2011年 / 12卷 / 03期

基金：

美国国家卫生研究院;

关键词：

CHRONIC GRANULOMATOUS-DISEASE; PHAGOCYTE RESPIRATORY BURST; HIGH-LEVEL RECONSTITUTION; NADPH OXIDASE; FLAVOCYTOCHROME B(558); CYTOCHROME B(558); REACTIVE OXYGEN; PRIMARY IMMUNODEFICIENCIES; HUMAN-NEUTROPHILS; INTERFERON-GAMMA;

D O I：

10.1038/ni.1992

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.

引用

页码：213 / U47

页数：10

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