Syndrome de susceptibilite mendélienne aux infections mycobacteriennes : défauts de l’axe Interleukine-12 - Interféron

Revue des Maladies Respiratoires - Tập 22 Số 5 - Trang 767-776 - 2005
É. Catherinot1,2, Claire Fieschi1, Jeanne Feinberg1, Jean‐Laurent Casanova1,3, Louis‐Jean Couderc2
1Laboratoire de Génétique Humaine des Maladies Infectieuses, Université René Descartes - INSERM U550, Faculté de Médecine Necker, Paris, France.
2Service de pneumologie, hôpital Foch, Suresnes, France
3Unité d'Immuno-Hématologie Pédiatrique, Hôpital Necker-Enfants-Malades, Paris, France

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Griffith, 2002, Diagnosing nontuberculous mycobacterial lung disease. A process in evolution, Infect Dis Clin North Am, 16, 235, 10.1016/S0891-5520(03)00054-0

Dye, 1999, Consensus statement. Global burden of tuberculosis: estimated incidence, prevalence, and mortality by country. WHO Global Surveillance and Monitoring Project, JAMA, 282, 677, 10.1001/jama.282.7.677

Schluger, 1998, The host immune response to tuberculosis, Am J Respir Crit Care Med, 157, 679, 10.1164/ajrccm.157.3.9708002

Lotte, 1984, A bibliography of the complications of BCG vaccination. A comprehensive list of the world literature since the introduction of BCG up to July 1982, supplemented by over 100 personal communications, Adv Tuberc Res, 21, 194

Wolinsky, 1979, Nontuberculous mycobacteria and associated diseases, Am Rev Respir Dis, 119, 107

Prince, 1989, Infection with Mycobacterium avium complex in patients without predisposing conditions, N Engl J Med, 321, 863, 10.1056/NEJM198909283211304

Tailleux, 2003, DC-SIGN is the major Mycobacterium tuberculosis receptor on human dendritic cells, J Exp Med, 197, 121, 10.1084/jem.20021468

Van Crevel, 2003, Innate immunity to Mycobacterium tuberculosis, Adv Exp Med Biol, 531, 241, 10.1007/978-1-4615-0059-9_20

Bulut, 2005, Mycobacterium tuberculosis heat shock proteins use diverse TLR pathways to activate pro-inflammatory signals, J Biol Chem, 280, 20961, 10.1074/jbc.M411379200

Stenger, 2002, Control of Mycobacterium tuberculosis through mammalian Toll-like receptors, Curr Opin Immunol, 14, 452, 10.1016/S0952-7915(02)00355-2

Fischer, 2004, Mycobacterial phosphatidylinositol mannoside is a natural antigen for CD1d-restricted T cells, Proc Natl Acad Sci U S A, 101, 10685, 10.1073/pnas.0403787101

Flynn, 2000, Immune responses in tuberculosis, Curr Opin Immunol, 12, 432, 10.1016/S0952-7915(00)00116-3

Watford, 2003, The biology of IL-12 : coordinating innate and adaptive immune responses, Cytokine Growth Factor Rev, 14, 361, 10.1016/S1359-6101(03)00043-1

Larousserie, 2004, Expression of IL-27 in human Th1-associated granulomatous diseases, J Pathol, 202, 164, 10.1002/path.1508

Fieschi, 2003, Human Interleukin-12-Interferon-gamma axis in protective immunity to mycobacteria, 151

Boehm, 1997, Cellular responses to interferon-gamma, Annu Rev Immunol, 15, 749, 10.1146/annurev.immunol.15.1.749

Oppmann, 2000, Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12, Immunity, 13, 715, 10.1016/S1074-7613(00)00070-4

Parham, 2002, A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit IL-23R, J Immunol, 168, 5699, 10.4049/jimmunol.168.11.5699

Horsburgh, 1991, Mycobacterium avium complex infection in the acquired immunodeficiency syndrome, N Engl J Med, 324, 1332, 10.1056/NEJM199105093241906

Falkinham, 1996, Epidemiology of infection by nontuberculous mycobacteria, Clin Microbiol Rev, 9, 177, 10.1128/CMR.9.2.177

Horsburgh, 1985, Disseminated infection with Mycobacterium avium-intracellulare. A report of 13 cases and a review of the literature, Medicine, 64, 36, 10.1097/00005792-198501000-00003

Reichenbach, 2001, Mycobacterial diseases in primary immunodeficiencies, Curr Opin Allergy Clin Immunol, 1, 503, 10.1097/00130832-200112000-00003

Stephan, 1993, Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients, J Pediatr, 123, 564, 10.1016/S0022-3476(05)80951-5

Levy, 1997, Clinical spectrum of X-linked hyper-IgM syndrome, J Pediatr, 131, 47, 10.1016/S0022-3476(97)70123-9

Ku, 2005, Inherited disorders of human Toll-like receptor signaling: immunological implications, Immunol Rev, 203, 10, 10.1111/j.0105-2896.2005.00235.x

Casanova, 1995, Immunological conditions of children with BCG disseminated infection, Lancet, 346, 581, 10.1016/S0140-6736(95)91421-8

Levin, 1995, Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?, Lancet, 345, 79, 10.1016/S0140-6736(95)90059-4

McKusick, 1998

Casanova, 2002, Genetic dissection of immunity to mycobacteria: The human model, Annu Rev Immunol, 20, 581, 10.1146/annurev.immunol.20.081501.125851

Doffinger, 2002, Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update, Mol Immunol, 38, 903, 10.1016/S0161-5890(02)00017-2

Emile, 1997, Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection, J Pathol, 181, 25, 10.1002/(SICI)1096-9896(199701)181:1<25::AID-PATH747>3.0.CO;2-Z

Casanova, 1996, Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study, Pediatrics, 98, 774, 10.1542/peds.98.4.774

Jouanguy, 1999, A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection, Nature Genet, 21, 370, 10.1038/7701

Newport, 1996, A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection, N Engl J Med, 335, 1941, 10.1056/NEJM199612263352602

Jouanguy, 1996, Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection, N Engl J Med, 335, 1956, 10.1056/NEJM199612263352604

Dorman, 2004, Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies, Lancet, 364, 2113, 10.1016/S0140-6736(04)17552-1

Rosenzweig, 2004, A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states, J Immunol, 173, 4000, 10.4049/jimmunol.173.6.4000

Dorman, 1998, Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection, J Clin Invest, 101, 2364, 10.1172/JCI2901

Dupuis, 2000, Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion, Immunol Rev, 178, 129, 10.1034/j.1600-065X.2000.17810.x

Feinberg, 2004, Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes, Eur J Immunol, 34, 3276, 10.1002/eji.200425221

Fieschi, 2001, High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency, Pediatrics, 107, E48, 10.1542/peds.107.4.e48

Sasaki, 2002, Genetic basis of patients with bacille Calmette-Guerin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type, J Infect Dis, 185, 706, 10.1086/339011

Arend, 2001, Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor, Neth J Med, 59, 140, 10.1016/S0300-2977(01)00152-8

Han, 2004, Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation, Clin Infect Dis, 39, 868, 10.1086/423804

Döffinger, 2000, Partial interferon gamma receptor signalling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection, J Infect Dis, 181, 379, 10.1086/315197

Jouanguy, 1997, Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis, J Clin Invest, 100, 2658, 10.1172/JCI119810

Dupuis, 2001, Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation, Science, 293, 300, 10.1126/science.1061154

Dupuis, 2003, Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency, Nat Genet, 33, 388, 10.1038/ng1097

Fieschi, 2003, The role of interleukin-12 in human infectious diseases: only a faint signature, Eur J Immunol, 33, 1461, 10.1002/eji.200324038

Fieschi, 2003, Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications, J Exp Med, 197, 527, 10.1084/jem.20021769

Fieschi, 2004, A novel form of complete IL-12/IL-23 receptor beta1-deficiency with cell surface-expressed non-functional receptors, Blood, 104, 2095, 10.1182/blood-2004-02-0584

Altare, 1998, Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency, Science, 280, 1432, 10.1126/science.280.5368.1432

Elloumi-Zghal, 2002, Clinical and Genetic Heterogeneity of Inherited Autosomal Recessive Susceptibility to Disseminated Mycobacterium bovis Bacille Calmette-Guerin Infection, J Infect Dis, 185, 1468, 10.1086/340510

Altare, 1998, Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection, J Clin Invest, 102, 2035, 10.1172/JCI4950

Picard, 2002, Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds, Am J Hum Genet, 70, 336, 10.1086/338625

Picard, 2000, Diagnosis and management of inheritable disorders of IFN-mediated immunity, Immunol Allergy Clin North Amer, 20, 65, 10.1016/S0889-8561(05)70134-X

MacLennan, 2004, Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans, J Infect Dis, 190, 1755, 10.1086/425021

Dorman, 1999, Viral infections in interferon receptor deficiency, J Pediatr, 135, 640, 10.1016/S0022-3476(99)70064-8

Camcioglu, 2004, HHV-8-associated Kaposi sarcoma in a child with IFNgamma R1 deficiency, J Pediatr, 144, 519, 10.1016/j.jpeds.2003.11.012

Diagnosis and treatment of disease caused by nontuberculous mycobacteria. Am J Respir Crit Care Med 1997 ; 156 : S1-25.

Rosenzweig, 2005, Defects in the interferon-gamma and interleukin-12 pathways, Immunol Rev, 203, 38, 10.1111/j.0105-2896.2005.00227.x

Holland, 2001, Immunotherapy of mycobacterial infections, Semin Respir Infect, 16, 47, 10.1053/srin.2001.22728

Ulrichs, 2005, Variable outcome of experimental interferon-gamma therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children, Eur J Pediatr, 164, 166, 10.1007/s00431-004-1599-2

Holland, 2000, Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection, Microbes Infect, 2, 1579, 10.1016/S1286-4579(00)01314-9

Hallstrand, 2004, Inhaled IFN-gamma for persistent nontuberculous mycobacterial pulmonary disease due to functional IFN-gamma deficiency, Eur Respir J, 24, 367, 10.1183/09031936.04.00036704

Roesler, 2004, Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey, J Pediatr, 145, 806, 10.1016/j.jpeds.2004.08.021

Catherinot, 2004, Non-tuberculous mycobacteria pulmonary disease in patients without predisposing conditions: Interleukin-12-Interferon Gamma axis study (abstract), Am J Respir Crit Care Med, 169, A132