Revisiting Crohn's disease as a primary immunodeficiency of macrophages

被引：106

作者：

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

Abel, Laurent ^{[1
,2
]}

机构：

[1] Rockefeller Univ, Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 11065 USA

[2] Univ Paris 05, Lab Human Genet Infect Dis, Necker Branch, Inst Natl Rech & Sante Med,U550, Paris, France

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 2009年 / 206卷 / 09期

关键词：

INFLAMMATORY-BOWEL-DISEASE; BACTERIAL-INFECTIONS; GENETIC DISSECTION; HUMAN IMMUNOLOGY; IMMUNITY; SUSCEPTIBILITY; MUTATIONS; ASSOCIATION; DYSFUNCTION; DEFICIENCY;

D O I：

10.1084/jem.20091683

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Despite two decades of mouse immunology and human genetics studies, the pathogenesis of Crohn's disease (CD) remains elusive. New clinical investigations suggest that CD may be caused by inborn errors of macrophages. These errors may result in impaired attraction of granulocytes to the gut wall, causing impaired clearance of intruding bacteria, thereby precipitating the formation of granulomas. This theory paves the way for a macrophage-based Mendelian genetic dissection of CD.

引用

页码：1839 / 1843

页数：5

共 30 条

[11]

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease [J].

Hugot, JP ;

Chamaillard, M ;

Zouali, H ;

Lesage, S ;

Cézard, JP ;

Belaiche, J ;

Almer, S ;

Tysk, C ;

O'Morain, CA ;

Gassull, M ;

Binder, V ;

Finkel, Y ;

Cortot, A ;

Modigliani, R ;

Laurent-Puig, P ;

Gower-Rousseau, C ;

Macry, J ;

Colombel, JF ;

Sahbatou, M ;

Thomas, G .

NATURE, 2001, 411 (6837) :599-603

[12]

Is Crohn's disease due to defective immunity? [J].

Korzenik, J. R. .

GUT, 2007, 56 (01) :2-5

[13]

Selective predisposition to bacterial infections in IRAK-4-deficient children:: IRAK-4-dependent TLRs are otherwise redundant in protective immunity [J].

Ku, Cheng-Lung ;

von Bernuth, Horst ;

Picard, Capucine ;

Zhang, Shen-Ying ;

Chang, Huey-Hsuan ;

Yang, Kun ;

Chrabieh, Maya ;

Issekutz, Andrew C. ;

Cunningham, Coleen K. ;

Gallin, John ;

Holland, Steven M. ;

Roifman, Chaim ;

Ehl, Stephan ;

Smart, Joanne ;

Tang, Mimi ;

Barrat, Franck J. ;

Levy, Ofer ;

McDonald, Douglas ;

Day-Good, Noorbibi K. ;

Miller, Richard ;

Takada, Hidetoshi ;

Hara, Toshiro ;

Al-Hajjar, Sami ;

Al-Ghonaium, Abdulaziz ;

Speert, David ;

Sanlaville, Damien ;

Li, Xiaoxia ;

Geissmann, Frederic ;

Vivier, Eric ;

Marodi, Laszlo ;

Garty, Ben-Zion ;

Chapel, Helen ;

Rodriguez-Gallego, Carlos ;

Bossuyt, Xavier ;

Abel, Laurent ;

Puel, Anne ;

Casanova, Jean-Laurent .

JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (10) :2407-2422

[14]

Kyle J, 1980, World J Surg, V4, P153

[15]

Personal genomes: The case of the missing heritability [J].

Maher, Brendan .

NATURE, 2008, 456 (7218) :18-21

[16]

Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease [J].

Marks, Daniel J. B. ;

Miyagi, Kana ;

Rahman, Farooq Z. ;

Novelli, Marco ;

Bloom, Stuart L. ;

Segal, Anthony W. .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2009, 104 (01) :117-124

[17]

Defective acute inflammation in Crohn's disease: a clinical investigation [J].

Marks, DJB ;

Harbord, MWN ;

MacAllister, R ;

Rahman, FZ ;

Young, J ;

Al-Lazikani, B ;

Lees, W ;

Novelli, M ;

Bloom, S ;

Segal, AW .

LANCET, 2006, 367 (9511) :668-678

[18]

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1 [J].

Martinez-Moczygemba, Margarita ;

Doan, Minh L. ;

Elidemir, Okan ;

Fan, Leland L. ;

Cheung, Sau Wai ;

Lei, Jonathan T. ;

Moore, James P. ;

Tavana, Ghamartaj ;

Lewis, Lora R. ;

Zhu, Yiming ;

Muzny, Donna M. ;

Gibbs, Richard A. ;

Huston, David P. .

JOURNAL OF EXPERIMENTAL MEDICINE, 2008, 205 (12) :2711-U19

[19]

CARD15 mutations in Blau syndrome [J].

Miceli-Richard, C ;

Lesage, S ;

Rybojad, M ;

Prieur, AM ;

Manouvrier-Hanu, S ;

Häfner, R ;

Chamaillard, M ;

Zouali, H ;

Thomas, G ;

Hugot, JP .

NATURE GENETICS, 2001, 29 (01) :19-20

[20]

A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1 [J].

Noguchi, Eiichiro ;

Homma, Yoichiro ;

Kang, Xiaoyan ;

Netea, Mihai G. ;

Ma, Xiaojing .

NATURE IMMUNOLOGY, 2009, 10 (05) :471-479

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