Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

被引:58
作者
Bustamante, Jacinta [1 ,2 ]
Picard, Capucine [2 ,3 ,4 ]
Boisson-Dupuis, Stephanie [2 ,5 ]
Abel, Laurent [2 ,5 ]
Casanova, Jean-Laurent [2 ,4 ,5 ]
机构
[1] Paris Descartes Univ, Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, F-75015 Paris, France
[2] Inst Natl Sante & Rech Med, Necker Branch, Lab Human Genet Infect Dis, Paris, France
[3] Hop Necker Enfants Malad, Study Ctr Primary Immunodeficiencies, Paris, France
[4] Hop Necker Enfants Malad, Pediat Hematol Immunol Unit, Paris, France
[5] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA
来源
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II | 2011年 / 1246卷
关键词
mycobacteria; X-linked primary immunodeficiency; NEMO; CYBB; interleukin-12; interferon-gamma; monocytes; macrophages; INTERFERON-GAMMA-RECEPTOR; ANHIDROTIC ECTODERMAL DYSPLASIA; CHRONIC GRANULOMATOUS-DISEASE; ESSENTIAL MODULATOR MUTATION; BACILLE CALMETTE-GUERIN; INHERITED INTERLEUKIN-12 DEFICIENCY; AVIUM COMPLEX INFECTION; HUMAN STAT1 DEFICIENCY; NEMO IKK-GAMMA; INCONTINENTIA PIGMENTI;
D O I
10.1111/j.1749-6632.2011.06273.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guerin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). Since 1996, MSMD-causing mutations have been found in six autosomal genes involved in IL-12/23-dependent, IFN-gamma-mediated immunity. The aim of this review is to provide the description of the two described forms of X-linked recessive (XR) MSMD. Germline mutations in two genes, NEMO and CYBB, have long been known to cause other human diseases-incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (NEMO/IKKG), and X-linked chronic granulomatous disease (CGD) (CYBB)-but specific mutations in either of these two genes have recently been shown to cause XR-MSMD. NEMO is an essential component of several NF-kappa B-dependent signaling pathways. The MSMD-causing mutations in NEMO selectively affect the CD40-dependent induction of IL-12 inmononuclear cells. CYBB encodes gp91(phox), which is an essential component of the NADPH oxidase in phagocytes. The MSMD-causing mutation in CYBB selectively affects the respiratory burst in macrophages. Mutations in NEMO and CYBB may therefore cause MSMD by selectively exerting their deleterious impact on a single signaling pathway (CD40-IL-12, NEMO) or a single cell type (macrophages, CYBB). These experiments of Nature illustrate how specific germline mutations in pleiotropic genes can dissociate signaling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes.
引用
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页码:92 / 101
页数:10
相关论文
共 101 条
[1]  
Abinun M, 1996, EUR J PEDIATR, V155, P146, DOI 10.1007/s004310050395
[2]   ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY [J].
ABINUN, M .
ARCHIVES OF DISEASE IN CHILDHOOD, 1995, 73 (02) :185-185
[3]   Tuberculosis in children and adults:: two distinct genetic diseases [J].
Alcaïs, A ;
Fieschi, C ;
Abel, L ;
Casanova, JL .
JOURNAL OF EXPERIMENTAL MEDICINE, 2005, 202 (12) :1617-1621
[4]  
Alcais A., 2011, ANN NY ACAD SCI, V1214, P18
[5]   Human genetics of infectious diseases: between proof of principle and paradigm [J].
Alcais, Alexandre ;
Abel, Laurent ;
Casanova, Jean-Laurent .
JOURNAL OF CLINICAL INVESTIGATION, 2009, 119 (09) :2506-2514
[6]   Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection [J].
Altare, F ;
Lammas, D ;
Revy, P ;
Jouanguy, E ;
Döffinger, R ;
Lamhamedi, S ;
Drysdale, P ;
Scheel-Toellner, D ;
Girdlestone, J ;
Darbyshire, P ;
Wadhwa, M ;
Dockrell, H ;
Salmon, M ;
Fischer, A ;
Durandy, A ;
Casanova, JL ;
Kumararatne, DS .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (12) :2035-2040
[7]   Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ) [J].
Aradhya, S ;
Courtois, G ;
Rajkovic, A ;
Lewis, RA ;
Levy, M ;
Israël, A ;
Nelson, DL .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :765-771
[8]   IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey [J].
Boisson-Dupuis, Stephanie ;
El Baghdadi, Jamila ;
Parvaneh, Nima ;
Bousfiha, Aziz ;
Bustamante, Jacinta ;
Feinberg, Jacqueline ;
Samarina, Arina ;
Grant, Audrey V. ;
Janniere, Lucile ;
El Hafidi, Naima ;
Hassani, Amal ;
Nolan, Daniel ;
Najib, Jilali ;
Camcioglu, Yildiz ;
Hatipoglu, Nevin ;
Aydogmus, Cigdem ;
Tanir, Gonul ;
Aytekin, Caner ;
Keser, Melike ;
Somer, Ayper ;
Aksu, Guside ;
Kutukculer, Necil ;
Mansouri, Davood ;
Mahdaviani, Alireza ;
Mamishi, Setareh ;
Alcais, Alexandre ;
Abel, Laurent ;
Casanova, Jean-Laurent .
PLOS ONE, 2011, 6 (04)
[9]   Novel genetic etiologies of severe congenital neutropenia [J].
Boztug, Kaan ;
Klein, Christoph .
CURRENT OPINION IN IMMUNOLOGY, 2009, 21 (05) :472-480
[10]   A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease [J].
Bustamante, Jacinta ;
Picard, Capucine ;
Fieschi, Claire ;
Filipe-Santos, Orchidee ;
Feinberg, Jacqueline ;
Perronne, Christian ;
Chapgier, Ariane ;
de Beaucoudrey, Ludovic ;
Vogt, Guillaume ;
Sanlaville, Damien ;
Lemainque, Arnaud ;
Emile, Jean-Francois ;
Abel, Laurent ;
Casanova, Jean-Laurent .
JOURNAL OF MEDICAL GENETICS, 2007, 44 (02) :e65