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Volumn 61, Issue 9, 2008, Pages 1006-1012

Genetically determined susceptibility to mycobacterial infection

Author keywords

[No Author keywords available]

Indexed keywords

ANTIMYCOBACTERIAL AGENT; CYTOKINE; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR 1; GAMMA INTERFERON RECEPTOR 2; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 12; INTERLEUKIN 12P40; INTERLEUKIN 18; INTERLEUKIN 23; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PROTEIN KINASE TYK2; STAT1 PROTEIN; UNCLASSIFIED DRUG; GAMMA INTERFERON RECEPTOR; INTERFERON RECEPTOR; INTERLEUKIN 12 RECEPTOR;

EID: 51349165853     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.2007.051201     Document Type: Review
Times cited : (32)

References (40)
  • 1
    • 0030467989 scopus 로고    scopus 로고
    • Role of T1 and T2 cytokines in the response to Mycobacterium tuberculosis
    • Flynn JL, Bloom BR. Role of T1 and T2 cytokines in the response to Mycobacterium tuberculosis. Ann N Y Acad Sci 1996;795:137-46.
    • (1996) Ann N Y Acad Sci , vol.795 , pp. 137-146
    • Flynn, J.L.1    Bloom, B.R.2
  • 2
    • 0030889207 scopus 로고    scopus 로고
    • The IFN gamma receptor: A paradigm for cytokine receptor signaling
    • Bach EA, Aguet M, Schreiber RD. The IFN gamma receptor: a paradigm for cytokine receptor signaling. Annu Rev Immunol 1997;15:563-91.
    • (1997) Annu Rev Immunol , vol.15 , pp. 563-591
    • Bach, E.A.1    Aguet, M.2    Schreiber, R.D.3
  • 3
    • 0034641738 scopus 로고    scopus 로고
    • Toll-related receptors and the control of antimicrobial peptide expression in Drosophila
    • Tauszig S, Jouanguy E, Hoffmann JA, et al. Toll-related receptors and the control of antimicrobial peptide expression in Drosophila. Proc Natl Acad Sci USA 2000;97:10520-5.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 10520-10525
    • Tauszig, S.1    Jouanguy, E.2    Hoffmann, J.A.3
  • 4
    • 9644257195 scopus 로고    scopus 로고
    • Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4
    • Watford WT, Hissong BD, Bream JH, et al. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev 2004;202:139-56.
    • (2004) Immunol Rev , vol.202 , pp. 139-156
    • Watford, W.T.1    Hissong, B.D.2    Bream, J.H.3
  • 5
    • 0033638507 scopus 로고    scopus 로고
    • Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12
    • Oppmann B, Lesley R, Blom B, et al. Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12. Immunity 2000;13:715-25.
    • (2000) Immunity , vol.13 , pp. 715-725
    • Oppmann, B.1    Lesley, R.2    Blom, B.3
  • 6
    • 0036604306 scopus 로고    scopus 로고
    • A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R
    • Parham C, Chirica M, Timans J, et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol 2002;168:5699-708.
    • (2002) J Immunol , vol.168 , pp. 5699-5708
    • Parham, C.1    Chirica, M.2    Timans, J.3
  • 8
    • 33845897463 scopus 로고    scopus 로고
    • Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
    • Minegishi Y, Saito M, Morio T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006;25:745-55.
    • (2006) Immunity , vol.25 , pp. 745-755
    • Minegishi, Y.1    Saito, M.2    Morio, T.3
  • 9
    • 0034067449 scopus 로고    scopus 로고
    • In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
    • Jouanguy E, Dupuis S, Pallier A, et al. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 2000;105:1429-36.
    • (2000) J Clin Invest , vol.105 , pp. 1429-1436
    • Jouanguy, E.1    Dupuis, S.2    Pallier, A.3
  • 10
    • 0031970784 scopus 로고    scopus 로고
    • A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child
    • Altare F, Jouanguy E, Lamhamedi-Cherradi S, et al. A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. Am J Hum Genet 1998;62:723-6.
    • (1998) Am J Hum Genet , vol.62 , pp. 723-726
    • Altare, F.1    Jouanguy, E.2    Lamhamedi-Cherradi, S.3
  • 12
    • 0028869497 scopus 로고
    • Familial disseminated atypical mycobacterial infection in childhood: A human mycobacterial susceptibility gene?
    • Levin M, Newport MJ, D'Souza S, et al. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 1995;345:79-83.
    • (1995) Lancet , vol.345 , pp. 79-83
    • Levin, M.1    Newport, M.J.2    D'Souza, S.3
  • 13
    • 0031468410 scopus 로고    scopus 로고
    • Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis
    • Jouanguy E, Lamhamedi-Cherradi S, Altare F, et al. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest 1997;100:2658-64.
    • (1997) J Clin Invest , vol.100 , pp. 2658-2664
    • Jouanguy, E.1    Lamhamedi-Cherradi, S.2    Altare, F.3
  • 14
    • 0032948177 scopus 로고    scopus 로고
    • A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
    • Jouanguy E, Lamhamedi-Cherradi S, Lammas D, et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 1999;21:370-8.
    • (1999) Nat Genet , vol.21 , pp. 370-378
    • Jouanguy, E.1    Lamhamedi-Cherradi, S.2    Lammas, D.3
  • 15
    • 4344648175 scopus 로고    scopus 로고
    • Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies
    • Dorman SE, Picard C, Lammas D, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 2004;364:2113-21.
    • (2004) Lancet , vol.364 , pp. 2113-2121
    • Dorman, S.E.1    Picard, C.2    Lammas, D.3
  • 16
    • 0034781968 scopus 로고    scopus 로고
    • Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis
    • Edgar JD, Smyth AE, Pritchard J, et al. Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis. J Pediatr 2001;139:600-3.
    • (2001) J Pediatr , vol.139 , pp. 600-603
    • Edgar, J.D.1    Smyth, A.E.2    Pritchard, J.3
  • 17
    • 4644281630 scopus 로고    scopus 로고
    • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: Biological consequences of homozygous and heterozygous states
    • Rosenzweig SD, Dorman SE, Uzel G, et al. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 2004;173:4000-8.
    • (2004) J Immunol , vol.173 , pp. 4000-4008
    • Rosenzweig, S.D.1    Dorman, S.E.2    Uzel, G.3
  • 18
    • 22844449795 scopus 로고    scopus 로고
    • Gains of glycosylate comprise an unexpectedly large group of pathogenic mutations
    • Vogt G, Chapgier A, Yang K, et al. Gains of glycosylate comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005;37:692-700.
    • (2005) Nat Genet , vol.37 , pp. 692-700
    • Vogt, G.1    Chapgier, A.2    Yang, K.3
  • 19
    • 0033967256 scopus 로고    scopus 로고
    • Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection
    • Döffinger R, Jouanguy E, Dupuis S, et al. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J Infect Dis 2000;181:379-84.
    • (2000) J Infect Dis , vol.181 , pp. 379-384
    • Döffinger, R.1    Jouanguy, E.2    Dupuis, S.3
  • 20
    • 0032535370 scopus 로고    scopus 로고
    • Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection
    • Altare F, Lammas D, Revy P, et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest 1998;102:2035-40.
    • (1998) J Clin Invest , vol.102 , pp. 2035-2040
    • Altare, F.1    Lammas, D.2    Revy, P.3
  • 21
    • 0036158322 scopus 로고    scopus 로고
    • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
    • Picard C, Fieschi C, Altare F, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002;70:336-48.
    • (2002) Am J Hum Genet , vol.70 , pp. 336-348
    • Picard, C.1    Fieschi, C.2    Altare, F.3
  • 22
    • 18244428735 scopus 로고    scopus 로고
    • Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
    • Altare F, Durandy A, Lammas D, et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998;280:1432-5.
    • (1998) Science , vol.280 , pp. 1432-1435
    • Altare, F.1    Durandy, A.2    Lammas, D.3
  • 23
    • 4644310307 scopus 로고    scopus 로고
    • A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors
    • Fieschi C, Bosticardo M, de Beaucoudrey L, et al. A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 2004;104:2095- 101.
    • (2004) Blood , vol.104 , pp. 2095-2101
    • Fieschi, C.1    Bosticardo, M.2    de Beaucoudrey, L.3
  • 24
    • 0037261363 scopus 로고    scopus 로고
    • Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency
    • Lichtenauer-Kaligis EG, de Boer T, Verreck FA, et al. Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol 2003;33:59-69.
    • (2003) Eur J Immunol , vol.33 , pp. 59-69
    • Lichtenauer-Kaligis, E.G.1    de Boer, T.2    Verreck, F.A.3
  • 25
    • 0037450808 scopus 로고    scopus 로고
    • Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications
    • Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003;197:527-35.
    • (2003) J Exp Med , vol.197 , pp. 527-535
    • Fieschi, C.1    Dupuis, S.2    Catherinot, E.3
  • 26
    • 0038759100 scopus 로고    scopus 로고
    • The role of interleukin-12 in human infectious diseases: Only a faint signature
    • Fieschi C, Casanova JL. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 2003;33:1461-4.
    • (2003) Eur J Immunol , vol.33 , pp. 1461-1464
    • Fieschi, C.1    Casanova, J.L.2
  • 27
    • 0035854542 scopus 로고    scopus 로고
    • Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
    • Dupuis S, Dargemont C, Fieschi C, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001;293:300-3.
    • (2001) Science , vol.293 , pp. 300-303
    • Dupuis, S.1    Dargemont, C.2    Fieschi, C.3
  • 28
    • 0037371835 scopus 로고    scopus 로고
    • Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency
    • Dupuis S, Jouanguy E, Al-Hajjar S, et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 2003;33:388-91.
    • (2003) Nat Genet , vol.33 , pp. 388-391
    • Dupuis, S.1    Jouanguy, E.2    Al-Hajjar, S.3
  • 29
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
    • Döffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001;27:277-85.
    • (2001) Nat Genet , vol.27 , pp. 277-285
    • Döffinger, R.1    Smahi, A.2    Bessia, C.3
  • 30
    • 0035286726 scopus 로고    scopus 로고
    • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
    • Jain A, Ma CA, Liu S, et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001;2:223-8.
    • (2001) Nat Immunol , vol.2 , pp. 223-228
    • Jain, A.1    Ma, C.A.2    Liu, S.3
  • 31
    • 0033658369 scopus 로고    scopus 로고
    • A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
    • Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000;67:1555-62.
    • (2000) Am J Hum Genet , vol.67 , pp. 1555-1562
    • Zonana, J.1    Elder, M.E.2    Schneider, L.C.3
  • 32
    • 13144261692 scopus 로고    scopus 로고
    • Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation
    • Orange JS, Levy O, Geha RS. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 2005;203:21-37.
    • (2005) Immunol Rev , vol.203 , pp. 21-37
    • Orange, J.S.1    Levy, O.2    Geha, R.S.3
  • 33
    • 8744275653 scopus 로고    scopus 로고
    • Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia
    • Dai YS, Liang MG, Gellis SE, et al. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol 2004;51:718-22.
    • (2004) J Am Acad Dermatol , vol.51 , pp. 718-722
    • Dai, Y.S.1    Liang, M.G.2    Gellis, S.E.3
  • 34
    • 33745835468 scopus 로고    scopus 로고
    • X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
    • Filipe-Santos O, Bustamante J, Haverkamp MH, et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 2006;203:1745-59.
    • (2006) J Exp Med , vol.203 , pp. 1745-1759
    • Filipe-Santos, O.1    Bustamante, J.2    Haverkamp, M.H.3
  • 35
    • 1542542689 scopus 로고    scopus 로고
    • Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity
    • Döffinger R, Helbert MR, Barcenas-Morales G, et al. Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis 2004;38:e10-4.
    • (2004) Clin Infect Dis , vol.38
    • Döffinger, R.1    Helbert, M.R.2    Barcenas-Morales, G.3
  • 36
    • 9144235409 scopus 로고    scopus 로고
    • Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans
    • Höflich C, Sabat R, Rosseau S, et al. Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood 2004;103:673-5.
    • (2004) Blood , vol.103 , pp. 673-675
    • Höflich, C.1    Sabat, R.2    Rosseau, S.3
  • 37
    • 25444487466 scopus 로고    scopus 로고
    • Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections
    • Patel SY, Ding L, Brown MR, et al. Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections. J Immunol 2005;175:4769-76.
    • (2005) J Immunol , vol.175 , pp. 4769-4776
    • Patel, S.Y.1    Ding, L.2    Brown, M.R.3
  • 38
    • 24644486557 scopus 로고    scopus 로고
    • Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma
    • Kampmann B, Hemingway C, Stephens A, et al. Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma. J Clin Invest 2005;115:2480-8.
    • (2005) J Clin Invest , vol.115 , pp. 2480-2488
    • Kampmann, B.1    Hemingway, C.2    Stephens, A.3
  • 39
    • 0034874691 scopus 로고    scopus 로고
    • Detection of intracellular phosphorylated STAT-4 by flow cytometry
    • Uzel G, Frucht DM, Fleisher TA et al. Detection of intracellular phosphorylated STAT-4 by flow cytometry. Clin Immunol 2001;100:270-6.
    • (2001) Clin Immunol , vol.100 , pp. 270-276
    • Uzel, G.1    Frucht, D.M.2    Fleisher, T.A.3
  • 40
    • 0030934873 scopus 로고    scopus 로고
    • Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency
    • Pierre-Audigier C, Jouanguy E, Lamhamedi S, et al. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin Infect Dis 1997;24:982-4.
    • (1997) Clin Infect Dis , vol.24 , pp. 982-984
    • Pierre-Audigier, C.1    Jouanguy, E.2    Lamhamedi, S.3


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