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Volumn 4, Issue 1, 2004, Pages 55-66

The human model: A genetic dissection of immunity to infection in natural conditions

Author keywords

[No Author keywords available]

Indexed keywords

CYTOLOGY; HOST PATHOGEN INTERACTION; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNITY; IMMUNOLOGY; INFECTION; MEDICAL RESEARCH; MOLECULAR BIOLOGY; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0347089095     PISSN: 14741733     EISSN: None     Source Type: Journal    
DOI: 10.1038/nri1264     Document Type: Review
Times cited : (244)

References (144)
  • 3
    • 0242581687 scopus 로고    scopus 로고
    • The immune response of Drosophila
    • Hoffmann, J. A. The immune response of Drosophila, Nature 426, 33-38 (2003).
    • (2003) Nature , vol.426 , pp. 33-38
    • Hoffmann, J.A.1
  • 4
    • 0036160153 scopus 로고    scopus 로고
    • How Drosophila combats microbial infection: A model to study innate immunity and host-pathogen interactions
    • Tzou, P., De Gregorio, E. & Lemaitre, B. How Drosophila combats microbial infection: a model to study innate immunity and host-pathogen interactions. Curr. Opin. Microbiol. 5, 102-110 (2002).
    • (2002) Curr. Opin. Microbiol. , vol.5 , pp. 102-110
    • Tzou, P.1    De Gregorio, E.2    Lemaitre, B.3
  • 5
    • 0036453247 scopus 로고    scopus 로고
    • Plant disease resistance: Commonality and novelty in multicellular innate immunity
    • Fluhr, R. & Kaplan-Levy, R. N. Plant disease resistance: commonality and novelty in multicellular innate immunity. Curr. Top. Microbiol. Immunol. 270, 23-46 (2002).
    • (2002) Curr. Top. Microbiol. Immunol. , vol.270 , pp. 23-46
    • Fluhr, R.1    Kaplan-Levy, R.N.2
  • 6
    • 0036774365 scopus 로고    scopus 로고
    • Forward genetics of infectious diseases: Immunological impact
    • Casanova, J. L., Schurr, E., Abel, L. & Skamene, E. Forward genetics of infectious diseases: immunological impact. Trends Immunol. 23, 469-472 (2002).
    • (2002) Trends Immunol. , vol.23 , pp. 469-472
    • Casanova, J.L.1    Schurr, E.2    Abel, L.3    Skamene, E.4
  • 7
    • 0037374524 scopus 로고    scopus 로고
    • Mice, microbes and models of infection
    • Buer, J. & Balling, R. Mice, microbes and models of infection. Nature Rev. Genet. 4, 195-205 (2003).
    • (2003) Nature Rev. Genet. , vol.4 , pp. 195-205
    • Buer, J.1    Balling, R.2
  • 8
    • 0037731431 scopus 로고    scopus 로고
    • Caenorhabditis elegans: An emerging genetic model for the study of innate immunity
    • Kurz, C. L. & Ewbank, J. J. Caenorhabditis elegans: an emerging genetic model for the study of innate immunity. Nature Rev. Genet. 4, 380-390 (2003).
    • (2003) Nature Rev. Genet. , vol.4 , pp. 380-390
    • Kurz, C.L.1    Ewbank, J.J.2
  • 9
    • 0036219062 scopus 로고    scopus 로고
    • Genetic dissection of immunity to mycobacteria: The human model
    • Casanova, J. L. & Abel, L. Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20, 581-620 (2002).
    • (2002) Annu. Rev. Immunol. , vol.20 , pp. 581-620
    • Casanova, J.L.1    Abel, L.2
  • 12
    • 0031761192 scopus 로고    scopus 로고
    • Genetic epidemiology of infectious diseases in humans: Design of population-based studies
    • Abel, L. & Dessein, A. J. Genetic epidemiology of infectious diseases in humans: design of population-based studies. Emerg. Infect. Dis. 4, 593-603 (1998).
    • (1998) Emerg. Infect. Dis. , vol.4 , pp. 593-603
    • Abel, L.1    Dessein, A.J.2
  • 13
    • 0034727380 scopus 로고    scopus 로고
    • Science, medicine, and the future: Susceptibility to infection
    • Kwiatkowski, D. Science, medicine, and the future: susceptibility to infection. BMJ 321, 1061-1065 (2000).
    • (2000) BMJ , vol.321 , pp. 1061-1065
    • Kwiatkowski, D.1
  • 14
    • 0037231791 scopus 로고    scopus 로고
    • Genetic susceptibility to infectious diseases
    • Burgner, D. & Levin, M. Genetic susceptibility to infectious diseases. Pediatr. Infect. Dis. J. 22, 1-6 (2003).
    • (2003) Pediatr. Infect. Dis. J. , vol.22 , pp. 1-6
    • Burgner, D.1    Levin, M.2
  • 15
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • Bruton, O. C. Agammaglobulinemia. Pediatrics 9, 722-728 (1952). This is the first clinical description of a Mendelian primary immunodeficiency. Children with X-linked recessive Bruton's aggamaglobulinaemia lack peripheral B cells and mostly suffer from severe pyogenic bacterial infections.
    • (1952) Pediatrics , vol.9 , pp. 722-728
    • Bruton, O.C.1
  • 16
    • 0038632047 scopus 로고    scopus 로고
    • The discovery of agammaglobulinaemia in 1952
    • Hitzig, W. H. The discovery of agammaglobulinaemia in 1952. Eur. J. Pediatr. 162, 289-304 (2003).
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 289-304
    • Hitzig, W.H.1
  • 17
    • 0037390479 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update
    • WHO. Primary immunodeficiency diseases: an update. Clin. Exp. Immunol. 132, 9-15 (2003).
    • (2003) Clin. Exp. Immunol. , vol.132 , pp. 9-15
  • 19
    • 0035832510 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An experimental model for molecular medicine
    • Fischer, A. Primary immunodeficiency diseases: an experimental model for molecular medicine. Lancet 357, 1863-1869 (2001).
    • (2001) Lancet , vol.357 , pp. 1863-1869
    • Fischer, A.1
  • 20
    • 77049164783 scopus 로고
    • Protection afforded by sickle cell trait against subtertian malarian infection
    • Allison, A. C. Protection afforded by sickle cell trait against subtertian malarian infection. BMJ 1, 290-294 (1954). This is the first evidence for a non-Mendelian contribution of human genes to the development of an infectious disease. The haemoglobin S trait (sickle-cell disease, drapanocytosis) confers protection from Plasmodium falciparum malaria, probably accounting for the increase of this trait in endemic regions.
    • (1954) BMJ , vol.1 , pp. 290-294
    • Allison, A.C.1
  • 21
    • 0023546567 scopus 로고
    • Common genetic disorders of the red cell and the 'malaria hypothesis'
    • Weatherall, D. J. Common genetic disorders of the red cell and the 'malaria hypothesis'. Ann. Trop. Med. Parasitol. 81, 539-548 (1987).
    • (1987) Ann. Trop. Med. Parasitol. , vol.81 , pp. 539-548
    • Weatherall, D.J.1
  • 22
    • 0035188944 scopus 로고    scopus 로고
    • The molecular bases of spontaneous immunological mutations in the mouse and their homologous human diseases
    • Joliat, M. J. & Shultz, L. D. The molecular bases of spontaneous immunological mutations in the mouse and their homologous human diseases. Clin. Immunol. 101, 113-129 (2001).
    • (2001) Clin. Immunol. , vol.101 , pp. 113-129
    • Joliat, M.J.1    Shultz, L.D.2
  • 23
    • 0028067609 scopus 로고
    • Bacterial and protozoal infections in genetically disrupted mice
    • Kaufmann, S. H. Bacterial and protozoal infections in genetically disrupted mice. Curr. Opin. Immunol. 6, 518-525 (1994).
    • (1994) Curr. Opin. Immunol. , vol.6 , pp. 518-525
    • Kaufmann, S.H.1
  • 25
    • 0036800367 scopus 로고    scopus 로고
    • The use of germ line-mutated mice in understanding host-pathogen interactions
    • Yap, G. S. & Sher, A. The use of germ line-mutated mice in understanding host-pathogen interactions. Cell Microbiol. 4, 627-634 (2002).
    • (2002) Cell Microbiol. , vol.4 , pp. 627-634
    • Yap, G.S.1    Sher, A.2
  • 26
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380, 152-154 (1996).
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 27
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1
  • 28
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter, J. C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1
  • 29
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    • Sachidanandam, R. et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928-933 (2001).
    • (2001) Nature , vol.409 , pp. 928-933
    • Sachidanandam, R.1
  • 30
    • 0028000121 scopus 로고
    • New member of the winged-helix protein family disrupted in mouse and rat nude mutations
    • Nehls, M., Pfeifer, D., Schorpp, M., Hedrich, H. & Boehm, T. New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 372, 103-107 (1994).
    • (1994) Nature , vol.372 , pp. 103-107
    • Nehls, M.1    Pfeifer, D.2    Schorpp, M.3    Hedrich, H.4    Boehm, T.5
  • 31
    • 0033535507 scopus 로고    scopus 로고
    • Exposing the human nude phenotype
    • Frank, J. et al. Exposing the human nude phenotype. Nature 398, 473-474 (1999).
    • (1999) Nature , vol.398 , pp. 473-474
    • Frank, J.1
  • 32
    • 0035989918 scopus 로고    scopus 로고
    • Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles, Pigment
    • Shiflett, S. L., Kaplan, J. & Ward, D. M. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles, Pigment Cell Res. 15, 251-257 (2002).
    • (2002) Cell Res. , vol.15 , pp. 251-257
    • Shiflett, S.L.1    Kaplan, J.2    Ward, D.M.3
  • 33
    • 0036796668 scopus 로고    scopus 로고
    • Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
    • Conley, M. E. & Howard, V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J. Pediatr. 141, 566-571 (2002).
    • (2002) J. Pediatr. , vol.141 , pp. 566-571
    • Conley, M.E.1    Howard, V.2
  • 34
    • 0038434099 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
    • Gambineri, E., Torgerson, T. R. & Ochs, H. D. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr. Opin. Rheumatol. 15, 430-435 (2003).
    • (2003) Curr. Opin. Rheumatol. , vol.15 , pp. 430-435
    • Gambineri, E.1    Torgerson, T.R.2    Ochs, H.D.3
  • 35
    • 0001368677 scopus 로고
    • Resistance of mice to mouse-adapted influenza A virus
    • Lindenmann, J. Resistance of mice to mouse-adapted influenza A virus. Virology 16, 203-204 (1962).
    • (1962) Virology , vol.16 , pp. 203-204
    • Lindenmann, J.1
  • 36
    • 0020607951 scopus 로고
    • Interferon induces a unique protein in mouse cells bearing a gene for resistance to influenza virus
    • Horisberger, M. A., Stäheli, P. & Haller, O. Interferon induces a unique protein in mouse cells bearing a gene for resistance to influenza virus. Proc. Natl Acad. Sci. USA 80, 1910-1914 (1983).
    • (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 1910-1914
    • Horisberger, M.A.1    Stäheli, P.2    Haller, O.3
  • 37
    • 0022540467 scopus 로고
    • Mx protein: Constitutive expression in 3T3 cells transformed with cloned Mx cDNA confers selective resistance to influenza virus
    • Staeheli, P., Haller, O., Boll, W., Lindenmann, J. & Weissmann, C. Mx protein: constitutive expression in 3T3 cells transformed with cloned Mx cDNA confers selective resistance to influenza virus. Cell 44, 147-158 (1986).
    • (1986) Cell , vol.44 , pp. 147-158
    • Staeheli, P.1    Haller, O.2    Boll, W.3    Lindenmann, J.4    Weissmann, C.5
  • 38
    • 0036788192 scopus 로고    scopus 로고
    • Interferon-induced Mx proteins: Dynamin-like GTPases with antiviral activity
    • Haller, O. & Kochs, G. Interferon-induced Mx proteins: dynamin-like GTPases with antiviral activity. Traffic 3, 710-717 (2003).
    • (2003) Traffic , vol.3 , pp. 710-717
    • Haller, O.1    Kochs, G.2
  • 39
    • 0019835032 scopus 로고
    • Genetic control of natural resistance to Mycobacterium bovis (BCG) in mice
    • Gros, P., Skamene, E. & Forget, A. Genetic control of natural resistance to Mycobacterium bovis (BCG) in mice. J. Immunol. 127, 2417-2421 (1981).
    • (1981) J. Immunol. , vol.127 , pp. 2417-2421
    • Gros, P.1    Skamene, E.2    Forget, A.3
  • 40
    • 0027262167 scopus 로고
    • Natural resistance to infection with intracellular parasites: Isolation of a candidate for Bcg
    • Vidal, S., Malo, D., Vogan, K., Skamene, E. & Gros, P. Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell 73, 469-485 (1993).
    • (1993) Cell , vol.73 , pp. 469-485
    • Vidal, S.1    Malo, D.2    Vogan, K.3    Skamene, E.4    Gros, P.5
  • 41
    • 0034455056 scopus 로고    scopus 로고
    • The Bog host-resistance gene
    • Buu, N., Sanchez, F. & Schurr, E. The Bog host-resistance gene. Clin. Infect. Dis. 31 (Suppl. 3), S81-S85 (2000).
    • (2000) Clin. Infect. Dis. , vol.31 , Issue.SUPPL. 3
    • Buu, N.1    Sanchez, F.2    Schurr, E.3
  • 42
    • 0034231339 scopus 로고    scopus 로고
    • Selective loss of type 1 interferon-induced STAT4 activation caused by a minisatellite insertion in mouse Stat2
    • Farrar, J. D. et al. Selective loss of type 1 interferon-induced STAT4 activation caused by a minisatellite insertion in mouse Stat2. Nature Immunol. 1, 65-69 (2000).
    • (2000) Nature Immunol. , vol.1 , pp. 65-69
    • Farrar, J.D.1
  • 43
    • 0037028155 scopus 로고    scopus 로고
    • The mosaic structure of variation in the laboratory mouse genome
    • Wade, C. M. et al. The mosaic structure of variation in the laboratory mouse genome. Nature 420, 574-578 (2002).
    • (2002) Nature , vol.420 , pp. 574-578
    • Wade, C.M.1
  • 44
    • 0037213794 scopus 로고    scopus 로고
    • Wild mice: An ever-increasing contribution to a popular mammalian model
    • Guenet, J. L. & Bonhomme, F. Wild mice: an ever-increasing contribution to a popular mammalian model. Trends Genet. 19, 24-31 (2003).
    • (2003) Trends Genet. , vol.19 , pp. 24-31
    • Guenet, J.L.1    Bonhomme, F.2
  • 45
    • 0038820034 scopus 로고    scopus 로고
    • A forward-genetic approach for analysis of the immune system
    • Appleby, M. W. & Ramsdell, F. A forward-genetic approach for analysis of the immune system. Nature Rev. Immunol. 3, 463-471 (2003).
    • (2003) Nature Rev. Immunol. , vol.3 , pp. 463-471
    • Appleby, M.W.1    Ramsdell, F.2
  • 46
    • 0032509295 scopus 로고    scopus 로고
    • Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: Mutations in Tlr4 gene
    • Poltorak, A. et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282, 2085-2088 (1998).
    • (1998) Science , vol.282 , pp. 2085-2088
    • Poltorak, A.1
  • 47
    • 0345561540 scopus 로고    scopus 로고
    • Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4)
    • Qureshi, S. T. et al. Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4). J. Exp. Med. 189, 615-625 (1999).
    • (1999) J. Exp. Med. , vol.189 , pp. 615-625
    • Qureshi, S.T.1
  • 48
    • 0037425584 scopus 로고    scopus 로고
    • Naip5 affects host susceptibility to the intracellular pathogen Legionella pneumophila
    • Wright, E. K. et al. Naip5 affects host susceptibility to the intracellular pathogen Legionella pneumophila. Curr. Biol. 13, 27-36 (2003).
    • (2003) Curr. Biol. , vol.13 , pp. 27-36
    • Wright, E.K.1
  • 49
    • 0037228017 scopus 로고    scopus 로고
    • Birc 1e is the gene within the Lgn1 locus associated with resistance to Legionella pneumophila
    • Diez, E. et al. Birc 1e is the gene within the Lgn1 locus associated with resistance to Legionella pneumophila. Nature Genet. 33, 55-60 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 55-60
    • Diez, E.1
  • 50
    • 0037047144 scopus 로고    scopus 로고
    • Positional cloning of the murine flavivirus resistance gene
    • Perelygin, A. A. et al. Positional cloning of the murine flavivirus resistance gene. Proc. Natl Acad. Sci. USA 99, 9322-9327 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 9322-9327
    • Perelygin, A.A.1
  • 51
    • 0037143755 scopus 로고    scopus 로고
    • A nonsense mutation in the gene encoding 2′-5′ -oligoadenylate synthetase/L1 isoform is associated with West Nile virus susceptibility in laboratory mice
    • Mashimo, T. et al. A nonsense mutation in the gene encoding 2′-5′-oligoadenylate synthetase/L1 isoform is associated with West Nile virus susceptibility in laboratory mice. Proc. Natl Acad. Sci. USA 99, 11311-11316 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 11311-11316
    • Mashimo, T.1
  • 52
    • 0035031191 scopus 로고    scopus 로고
    • Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamily
    • Lee, S. H. et al. Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamily. Nature Genet. 28, 42-45 (2001).
    • (2001) Nature Genet. , vol.28 , pp. 42-45
    • Lee, S.H.1
  • 53
    • 0035805110 scopus 로고    scopus 로고
    • Vital involvement of a natural killer cell activation receptor in resistance to viral infection
    • Brown, M. G. et al. Vital involvement of a natural killer cell activation receptor in resistance to viral infection. Science 292,934-937 (2001).
    • (2001) Science , vol.292 , pp. 934-937
    • Brown, M.G.1
  • 54
    • 0035796469 scopus 로고    scopus 로고
    • Murine cytomegalovirus is regulated by a discrete subset of natural killer cells reactive with monoclonal antibody to Ly49H
    • Daniels, K. A. et al. Murine cytomegalovirus is regulated by a discrete subset of natural killer cells reactive with monoclonal antibody to Ly49H. J. Exp. Med. 194, 29-44 (2001).
    • (2001) J. Exp. Med. , vol.194 , pp. 29-44
    • Daniels, K.A.1
  • 56
    • 0034755162 scopus 로고    scopus 로고
    • Fv-4: Identification of the defect in Env and the mechanism of resistance to ecotropic murine leukemia virus
    • Taylor, G. M., Gao, Y. & Sanders, D. A. Fv-4: identification of the defect in Env and the mechanism of resistance to ecotropic murine leukemia virus J. Virol. 75, 11244-11248 (2001).
    • (2001) J. Virol. , vol.75 , pp. 11244-11248
    • Taylor, G.M.1    Gao, Y.2    Sanders, D.A.3
  • 57
    • 0141482051 scopus 로고    scopus 로고
    • A natural mutation in the Tyk2 pseudokinase domain underlies altered susceptibility of B10. Q/J mice to infection and autoimmunity
    • Shaw, M. H. et al. A natural mutation in the Tyk2 pseudokinase domain underlies altered susceptibility of B10. Q/J mice to infection and autoimmunity. Proc. Natl Acad. Sci. USA 100, 11594-11599 (2003).
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 11594-11599
    • Shaw, M.H.1
  • 58
    • 0042203843 scopus 로고    scopus 로고
    • Maneuvering for advantage: The genetics of mouse susceptibility to virus infection
    • Lee, S. H. et al. Maneuvering for advantage: the genetics of mouse susceptibility to virus infection. Trends Genet. 19, 447-457 (2003).
    • (2003) Trends Genet. , vol.19 , pp. 447-457
    • Lee, S.H.1
  • 61
    • 0035368519 scopus 로고    scopus 로고
    • A transgenic model for listeriosis: Role of internalin in crossing the intestinal barrier
    • Lecuit, M. et al. A transgenic model for listeriosis: role of internalin in crossing the intestinal barrier. Science 292, 1722-1725 (2001).
    • (2001) Science , vol.292 , pp. 1722-1725
    • Lecuit, M.1
  • 62
    • 0030913830 scopus 로고    scopus 로고
    • Human papillomaviruses: General features
    • Favre, M., Ramoz, N. & Orth, G. Human papillomaviruses: general features. Clin. Dermatol. 15, 181-198 (1997).
    • (1997) Clin. Dermatol. , vol.15 , pp. 181-198
    • Favre, M.1    Ramoz, N.2    Orth, G.3
  • 63
    • 0030942670 scopus 로고    scopus 로고
    • The rabbit viral skin papillomas and carcinomas: A model for the immunogenetics of HPV-associated carcinogenesis
    • Breitburd, F., Salmon, J. & Orth, G. The rabbit viral skin papillomas and carcinomas: a model for the immunogenetics of HPV-associated carcinogenesis. Clin. Dermatol. 15, 237-247 (1997).
    • (1997) Clin. Dermatol. , vol.15 , pp. 237-247
    • Breitburd, F.1    Salmon, J.2    Orth, G.3
  • 64
    • 0033018650 scopus 로고    scopus 로고
    • A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus
    • Ramoz, N. Rueda, L. A., Bouadjar, B., Favre, M. & Orth, G. A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. J. Invest. Dermatol. 112, 259-283 (1999).
    • (1999) J. Invest. Dermatol. , vol.112 , pp. 259-283
    • Ramoz, N.1    Rueda, L.A.2    Bouadjar, B.3    Favre, M.4    Orth, G.5
  • 65
    • 18744369886 scopus 로고    scopus 로고
    • Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
    • Ramoz, N. et al. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nature Genet. 32, 579-581 (2002). This is the first identification of a Mendelian genetic aetiology for the syndrome of epidermodysplasia verruciformis, which is characterized by a specific susceptibility to oncogenic cutaneous papillomaviruses. The positional cloning approach allowed the discovery of two new genes located in tandem, which opens a new field in skin immunity.
    • (2002) Nature Genet. , vol.32 , pp. 579-581
    • Ramoz, N.1
  • 66
    • 0037656291 scopus 로고    scopus 로고
    • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
    • Hernandez, P. A. et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genet. 34, 70-74 (2003). Reports the genetic aetiology of the WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome, characterized by severe infections caused by human papillomaviruses and other microorganisms.
    • (2003) Nature Genet. , vol.34 , pp. 70-74
    • Hernandez, P.A.1
  • 67
    • 0017077503 scopus 로고
    • The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy
    • Miller, L. H., Mason, S. J., Clyde, D. F. & McGinniss, M. H. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N. Engl. J. Med. 295, 302-304 (1976).
    • (1976) N. Engl. J. Med. , vol.295 , pp. 302-304
    • Miller, L.H.1    Mason, S.J.2    Clyde, D.F.3    McGinniss, M.H.4
  • 68
    • 0016592489 scopus 로고
    • Erythrocyte receptors for (Plasmodium knowles) malaria: Duffy blood group determinants
    • Miller, L. H., Mason, S. J., Dvorak, J. A., McGinniss, M. H. & Rothman, I. K. Erythrocyte receptors for (Plasmodium knowles) malaria: Duffy blood group determinants. Science 189, 561-563 (1975). References 67 and 68 describe the first Mendelian resistance to common infectious diseases in humans. Individuals negative for the Duffy red-cell antigen were shown to be completely resistant to Plasmodium vivax, probably accounting for the increase of this genotype in endemic regions.
    • (1975) Science , vol.189 , pp. 561-563
    • Miller, L.H.1    Mason, S.J.2    Dvorak, J.A.3    McGinniss, M.H.4    Rothman, I.K.5
  • 69
    • 0018777194 scopus 로고
    • Interaction between cytochalasin B-treated malarial parasites and erythrocytes. Attachment and junction formation
    • Miller, L. H., Aikawa, M., Johnson, J. G. & Shiroishi, T. Interaction between cytochalasin B-treated malarial parasites and erythrocytes. Attachment and junction formation. J. Exp. Med. 149, 172-184 (1979).
    • (1979) J. Exp. Med. , vol.149 , pp. 172-184
    • Miller, L.H.1    Aikawa, M.2    Johnson, J.G.3    Shiroishi, T.4
  • 70
    • 0029001881 scopus 로고
    • Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals
    • Tournamille, C., Colin, Y., Cartron, J. P. & Le Van Kim, C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genet. 10, 224-228 (1995). This paper elucidated the molecular basis of the lack of erythroid expression of Duffy in Plasmodium vivax-resistant individuals. Remarkably, a recessive regulatory single-nucleotide substitution accounts for the erythroid-specific lack of Duffy expression.
    • (1995) Nature Genet. , vol.10 , pp. 224-228
    • Tournamille, C.1    Colin, Y.2    Cartron, J.P.3    Le Van Kim, C.4
  • 71
    • 0032800028 scopus 로고    scopus 로고
    • Determination of Duffy genotypes in three populations of African descent using PCR and sequence-specific oligonucleotides
    • Nickel, R. G. et al. Determination of Duffy genotypes in three populations of African descent using PCR and sequence-specific oligonucleotides. Hum. Immunol. 60, 738-742 (1999).
    • (1999) Hum. Immunol. , vol.60 , pp. 738-742
    • Nickel, R.G.1
  • 72
    • 16044373004 scopus 로고    scopus 로고
    • Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR5 chemokine receptor gene
    • Samson, M. et al. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR5 chemokine receptor gene. Nature 382, 722-725 (1996).
    • (1996) Nature , vol.382 , pp. 722-725
    • Samson, M.1
  • 73
    • 15844388931 scopus 로고    scopus 로고
    • Homozygous defects in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection
    • Liu, R. et al. Homozygous defects in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 86, 367-377 (1996).
    • (1996) Cell , vol.86 , pp. 367-377
    • Liu, R.1
  • 74
    • 0001633495 scopus 로고    scopus 로고
    • Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene
    • Dean, M. et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 273, 1856-1862 (1996). References 73 and 74 describe the first Mendelian resistance to HIV-1, caused by recessive mutations in CC-chemokine receptor 5 (CCR5).
    • (1996) Science , vol.273 , pp. 1856-1862
    • Dean, M.1
  • 75
    • 17344372255 scopus 로고    scopus 로고
    • Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes
    • Stephens, J. C. et al. Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes. Am. J. Hum. Genet 62, 1507-1515 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1507-1515
    • Stephens, J.C.1
  • 76
    • 0038239855 scopus 로고    scopus 로고
    • Human susceptibility and resistance to Norwalk virus infection
    • Lindesmith, L. et al. Human susceptibility and resistance to Norwalk virus infection. Nature Med. 9, 548-553 (2003). This is the third example of Mendelian resistance to common infections, as recessive mutations in fucosyltransferase 2 (FUT2) are associated with resistance to gastroenteritis caused by noroviruses.
    • (2003) Nature Med. , vol.9 , pp. 548-553
    • Lindesmith, L.1
  • 77
    • 0036082706 scopus 로고    scopus 로고
    • Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals
    • Marionneau, S. et al. Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals. Gastroenterology 122, 1967-1977 (2002).
    • (2002) Gastroenterology , vol.122 , pp. 1967-1977
    • Marionneau, S.1
  • 78
    • 0027399081 scopus 로고
    • Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
    • Tsukada, S. et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72, 279-290 (1993).
    • (1993) Cell , vol.72 , pp. 279-290
    • Tsukada, S.1
  • 79
    • 0036216657 scopus 로고    scopus 로고
    • Kostmann syndrome and severe congenital neutropenia
    • Zeidler, C. & Welte, K. Kostmann syndrome and severe congenital neutropenia. Semin. Hematol. 39, 82-88 (2002).
    • (2002) Semin. Hematol. , vol.39 , pp. 82-88
    • Zeidler, C.1    Welte, K.2
  • 80
    • 0016612028 scopus 로고
    • Infantile genetic agranulocytosis: A review with presentation of ten new cases
    • Kostmann, R. Infantile genetic agranulocytosis: a review with presentation of ten new cases. Acta Pediatr. Scand. 64, 362-368 (1975).
    • (1975) Acta Pediatr. Scand. , vol.64 , pp. 362-368
    • Kostmann, R.1
  • 81
    • 77049235105 scopus 로고
    • Infantile genetic agranulocytosis
    • Kostmann, R. Infantile genetic agranulocytosis. Acta Pediatr. Scand. 45, 1-78 (1956). The first description of a Mendelian disorder of myeloid cells, with an autosomal recessive lack of polymorphonuclear leukocytes in children with severe infections.
    • (1956) Acta Pediatr. Scand. , vol.45 , pp. 1-78
    • Kostmann, R.1
  • 82
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale, D. C. et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96, 2317-2322 (2000).
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1
  • 83
    • 0038757823 scopus 로고    scopus 로고
    • Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
    • Person, R. E. et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nature Genet. 34, 308-312 (2003).
    • (2003) Nature Genet. , vol.34 , pp. 308-312
    • Person, R.E.1
  • 84
    • 0000025287 scopus 로고
    • A new concept of the cellular basis of immunity
    • DiGeorge, A. M. A new concept of the cellular basis of immunity. J. Pediatr. 67, 907-908 (1965). Following Bruton's agammaglobulinaemia and Kostmann's agranulocytosis, the third description of a genetically determined complete lack of a leukocyte subset: patients with Di George syndrome are heterozygous for a dominant 22q11 deletion and lack peripheral T cells due to impaired thymus formation . This disorder is not strictly Mendelian, as the causal dominant gene(s) is not known and the penetrance of the T-cell anomaly is very low.
    • (1965) J. Pediatr. , vol.67 , pp. 907-908
    • DiGeorge, A.M.1
  • 85
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • Perez, E. & Sullivan, K. E. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr. Opin. Pedatr. 14, 678-683 (2002).
    • (2002) Curr. Opin. Pedatr. , vol.14 , pp. 678-683
    • Perez, E.1    Sullivan, K.E.2
  • 87
    • 0028147121 scopus 로고
    • Homozygous human TAP peptide transporter mutation in HLA class I deficiency
    • + T cells, but surprisingly not with viral diseases. This paper illustrates the paradoxical insights that can be provided by human genetic studies.
    • (1994) Science , vol.265 , pp. 237-241
    • De La Salle, H.1
  • 89
    • 0037103321 scopus 로고    scopus 로고
    • A subject with a novel type I bare lymphocyte syndrome has tapasin defciency due to deletion of 4 exons by Alu-mediated recombination
    • Yabe, T. et al. A subject with a novel type I bare lymphocyte syndrome has tapasin defciency due to deletion of 4 exons by Alu-mediated recombination. Blood 100, 1496-1498 (2002). The first report of inherited tapasin deficiency, also associated with HLA class I deficiency, but surprisingly not susceptibility to viral diseases.
    • (2002) Blood , vol.100 , pp. 1496-1498
    • Yabe, T.1
  • 91
    • 0036595397 scopus 로고    scopus 로고
    • Cytotoxic T lymphocytes: All roads lead to death
    • Barry, M. & Bleackley, R. C. Cytotoxic T lymphocytes: all roads lead to death. Nature Rev. Immunol. 2, 401-409 (2002).
    • (2002) Nature Rev. Immunol. , vol.2 , pp. 401-409
    • Barry, M.1    Bleackley, R.C.2
  • 92
    • 0036781052 scopus 로고    scopus 로고
    • NF-κB regulation in the immune system
    • Li, Q. & Verma, I. M. NF-κB regulation in the immune system. Nature Rev. Immunol. 2, 725-734 (2002).
    • (2002) Nature Rev. Immunol. , vol.2 , pp. 725-734
    • Li, Q.1    Verma, I.M.2
  • 93
    • 1042278904 scopus 로고    scopus 로고
    • Inherited disorders of NF-κB-mediated immunity in man
    • in the press
    • Puel, A. et al. Inherited disorders of NF-κB-mediated immunity in man. Curr. Opin. Immunol. (in the press).
    • Curr. Opin. Immunol.
    • Puel, A.1
  • 94
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
    • Doffinger R. et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nature Genet. 27, 277-285 (2001).
    • (2001) Nature Genet. , vol.27 , pp. 277-285
    • Doffinger, R.1
  • 95
    • 85047693559 scopus 로고    scopus 로고
    • A hypermorphic mutation of IκBα is associated with autosomal dominant anhydrotic ectodermal dysplasia and T cell immunodeficiency
    • Courtois, G. et al. A hypermorphic mutation of IκBα is associated with autosomal dominant anhydrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112, 1108-1115 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 1108-1115
    • Courtois, G.1
  • 96
    • 0036449063 scopus 로고    scopus 로고
    • Signal transduction pathways activated by the IL-1 receptor/toll-like receptor superfamily
    • O'Neill, L. A. Signal transduction pathways activated by the IL-1 receptor/toll-like receptor superfamily. Curr. Top. Microbiol. Immunol. 270, 47-61 (2002).
    • (2002) Curr. Top. Microbiol. Immunol. , vol.270 , pp. 47-61
    • O'Neill, L.A.1
  • 97
    • 0037471003 scopus 로고    scopus 로고
    • Pyogenic bacterial infections in humans with IRAK-4 deficiency
    • Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076-2079 (2003). The first report of a human Mendelian defect that affects the common Toll-like receptor and interleukin-1 (IL-1)-receptor signalling (TIR) pathway. Surprisingly, patients with this condition suffer from a relatively narrow spectrum of infectious diseases, mostly limited to pyogenic bacteria.
    • (2003) Science , vol.299 , pp. 2076-2079
    • Picard, C.1
  • 98
    • 0043281537 scopus 로고    scopus 로고
    • Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections
    • Medvedev, A. E. et al. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J. Exp. Med. 198, 521-531 (2003).
    • (2003) J. Exp. Med. , vol.198 , pp. 521-531
    • Medvedev, A.E.1
  • 100
    • 0026936464 scopus 로고
    • The role of interleukin-1 in host responses to infectious diseases
    • Dinarello, C. A. The role of interleukin-1 in host responses to infectious diseases. Infect. Agents Dis. 1, 227-236 (1992).
    • (1992) Infect. Agents Dis. , vol.1 , pp. 227-236
    • Dinarello, C.A.1
  • 102
    • 0036162621 scopus 로고    scopus 로고
    • Toll-like receptors: Mammalian 'taste receptors' for a smorgasbord of microbial invaders
    • Sieling, P. A. & Modlin, R. L. Toll-like receptors: mammalian 'taste receptors' for a smorgasbord of microbial invaders. Curr. Opin. Microbiol. 5, 70-75 (2002).
    • (2002) Curr. Opin. Microbiol. , vol.5 , pp. 70-75
    • Sieling, P.A.1    Modlin, R.L.2
  • 103
    • 0038687082 scopus 로고    scopus 로고
    • Interleukin-18 and host defense against infection
    • Dinarello, C. A. & Fantuzzi, G. Interleukin-18 and host defense against infection. J. Infect. Dis 187, S370-S384 (2003).
    • (2003) J. Infect. Dis. , vol.187
    • Dinarello, C.A.1    Fantuzzi, G.2
  • 104
    • 0015970065 scopus 로고
    • Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies
    • Leddy, J. P., Frank, M. M., Gaither, T., Baum, J. & Klemperer, M. R. Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. J. Clin. Invest. 53, 544-553 (1974). The first description of a genetic defect of a component of the terminal phase of complement, associated with a selective susceptibility to Neisseria. It is also the first molecular elucidation of a Mendelian 'hole' in immunity to infection.
    • (1974) J. Clin. Invest. , vol.53 , pp. 544-553
    • Leddy, J.P.1    Frank, M.M.2    Gaither, T.3    Baum, J.4    Klemperer, M.R.5
  • 105
    • 0032453613 scopus 로고    scopus 로고
    • Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies
    • Wurzner, R. et al. Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies. Exp. Clin Immunogenet. 15, 268-285 (1998).
    • (1998) Exp. Clin Immunogenet. , vol.15 , pp. 268-285
    • Wurzner, R.1
  • 106
    • 0026334328 scopus 로고
    • Inherited deficiencies of the terminal components of human complement
    • Würzner, R., Orren, A. & Lachmann, P. J. Inherited deficiencies of the terminal components of human complement. Immunodef. Rev. 3, 123-147 (1992).
    • (1992) Immunodef. Rev. , vol.3 , pp. 123-147
    • Würzner, R.1    Orren, A.2    Lachmann, P.J.3
  • 107
    • 0034535238 scopus 로고    scopus 로고
    • Complement deficiencies
    • Frank, M. M. Complement deficiencies. Pediatr. Clin. N. Am. 47, 1339-1354 (2000).
    • (2000) Pediatr. Clin. N. Am. , vol.47 , pp. 1339-1354
    • Frank, M.M.1
  • 108
    • 0030467174 scopus 로고    scopus 로고
    • A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection
    • Newport, M. J. et al. A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335, 1941-1949 (1996).
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1941-1949
    • Newport, M.J.1
  • 109
    • 0030455878 scopus 로고    scopus 로고
    • Interferon-γ-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection
    • Jouanguy, E. et al. Interferon-γ-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335, 1956-1961 (1996) References 108 and 109 are the first descriptions of autosomal-recessive complete interferon-γ(IFN-γ)-receptor deficiency, in children with the syndrome of Mendelian susceptibility to mycobacterial diseases, which is characterized by a hole in immunity to infection and a narrow spectrum of infections, caused mostly by mycobacteria (and salmonella).
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1956-1961
    • Jouanguy, E.1
  • 110
    • 0028869497 scopus 로고
    • Familial disseminated atypical mycobacterial infection in childhood: A human mycobacterial susceptibility gene?
    • Levin, M. et al. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 345, 79-83 (1995).
    • (1995) Lancet , vol.345 , pp. 79-83
    • Levin, M.1
  • 111
    • 0029838301 scopus 로고    scopus 로고
    • Idiopathic disseminated bacillus Calmette-Guerin infection: A French national retrospective study
    • Casanova, J. L. et al. Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics 98, 774-778 (1996).
    • (1996) Pediatrics , vol.98 , pp. 774-778
    • Casanova, J.L.1
  • 112
    • 0033497350 scopus 로고    scopus 로고
    • Viral infections in interferon-γ receptor deficiency
    • Dorman, S. E. et al. Viral infections in interferon-γ receptor deficiency. J. Pediatr. 135, 640-643 (1999).
    • (1999) J. Pediatr. , vol.135 , pp. 640-643
    • Dorman, S.E.1
  • 113
    • 0032819175 scopus 로고    scopus 로고
    • Recurrent mycobacterial and listeria infections in a child with interferon-γ receptor deficiency: Mutational analysis and evaluation of therapeutic options
    • Roesler, J. et al. Recurrent mycobacterial and listeria infections in a child with interferon-γ receptor deficiency: mutational analysis and evaluation of therapeutic options. Exp. Haematol. 27, 1368-1374 (1999)
    • (1999) Exp. Haematol. , vol.27 , pp. 1368-1374
    • Roesler, J.1
  • 114
    • 0033826812 scopus 로고    scopus 로고
    • Interferon-γ and interleukin-12 pathway defects and human disease
    • Dorman, S. E. & Holland, S. M. Interferon-γ and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev. 11, 321-333 (2000).
    • (2000) Cytokine Growth Factor Rev. , vol.11 , pp. 321-333
    • Dorman, S.E.1    Holland, S.M.2
  • 115
    • 0022640843 scopus 로고
    • Two types of murine helper T cell clone. I. Definition according to profiles of lymphokine activities and secreted proteins
    • Mosmann, T. R., Cherwinski, H., Bond, M. W., Giedlin, M. A. & Coffman, R. L. Two types of murine helper T cell clone. I. Definition according to profiles of lymphokine activities and secreted proteins. J. Immunol. 136, 2348-2357 (1986).
    • (1986) J. Immunol. , vol.136 , pp. 2348-2357
    • Mosmann, T.R.1    Cherwinski, H.2    Bond, M.W.3    Giedlin, M.A.4    Coffman, R.L.5
  • 116
    • 0033054079 scopus 로고    scopus 로고
    • H2 paradigm in man
    • H2 paradigm in man. Allergy 54, 409-412 (1999).
    • (1999) Allergy , vol.54 , pp. 409-412
    • Döffinger, R.1
  • 117
    • 0030746897 scopus 로고    scopus 로고
    • H2: Reliable paradigm or dangerous dogma?
    • H2: reliable paradigm or dangerous dogma? Immunol. Today 18, 387-392 (1997).
    • (1997) Immunol. Today , vol.18 , pp. 387-392
    • Allen, J.E.1    Maizels, R.M.2
  • 118
    • 0038759100 scopus 로고    scopus 로고
    • The role of interleukin-12 in human infectious diseases: Only a faint signature
    • Fieschi, C. & Casanova, J. L. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur. J. Immunol. 33, 1461-1464 (2003).
    • (2003) Eur. J. Immunol. , vol.33 , pp. 1461-1464
    • Fieschi, C.1    Casanova, J.L.2
  • 119
    • 0037450808 scopus 로고    scopus 로고
    • Low penetrance, broad resistance, and favorable outcome of interleukin-12 receptor β1 deficiency: Medical and immunological implications
    • Fieschi, C. et al. Low penetrance, broad resistance, and favorable outcome of interleukin-12 receptor β1 deficiency: medical and immunological implications. J. Exp. Med. 197, 527-535 (2003). The first description of a low clinical penetrance (for the case-definition phenotype) among genetic aetiologies of the syndrome of Mendelian susceptibility to mycobacterial diseases, raising the possibility that other, related phenotypes, such as tuberculosis, might be associated with IL-12-receptor deficiency.
    • (2003) J. Exp. Med. , vol.197 , pp. 527-535
    • Fieschi, C.1
  • 120
    • 0038195718 scopus 로고    scopus 로고
    • Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor β1 deficiency
    • Caragol, I. et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor β1 deficiency. Clin. Infect. Dis. 37, 302-306 (2003).
    • (2003) Clin. Infect. Dis. , vol.37 , pp. 302-306
    • Caragol, I.1
  • 121
    • 0035879825 scopus 로고    scopus 로고
    • Interleukin-12 receptor β1 deficiency in a patient with abdominal tuberculosis
    • Altare, F. et al. Interleukin-12 receptor β1 deficiency in a patient with abdominal tuberculosis. J. Infect. Dis. 184, 231-236 (2001).
    • (2001) J. Infect. Dis. , vol.184 , pp. 231-236
    • Altare, F.1
  • 122
    • 0031468410 scopus 로고    scopus 로고
    • Partial interferon-γ receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis
    • Jouanguy, E. et al. Partial interferon-γ receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J. Clin. Invest. 100, 2658-2664 (1997). References 120-122 describe the first three families with a truly Mendelian tuberculosis: patients with a genetic defect of the IL-12-IFN-γ pathway developed clinical tuberculosis in the absence of any personal or even familial previous history of clinical disease caused by poorly virulent mycobacterial species.
    • (1997) J. Clin. Invest. , vol.100 , pp. 2658-2664
    • Jouanguy, E.1
  • 123
    • 0034500805 scopus 로고    scopus 로고
    • Human interferon-γ-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion
    • Dupuis, S. et al. Human interferon-γ-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol. Rev. 178, 129-137 (2000).
    • (2000) Immunol. Rev. , vol.178 , pp. 129-137
    • Dupuis, S.1
  • 124
    • 0033859730 scopus 로고    scopus 로고
    • Genetic predisposition to clinical tuberculosis: Bridging the gap between simple and complex inheritance
    • Abel, L. & Casanova, J. L. Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance. Am. J. Hum. Genet. 67, 274-277 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 274-277
    • Abel, L.1    Casanova, J.L.2
  • 125
    • 0034107362 scopus 로고    scopus 로고
    • Genetic susceptibility to malaria getting complex
    • Kwiatkowski, D. Genetic susceptibility to malaria getting complex. Curr. Opin. Genet. Dev. 10, 320-324 (2000).
    • (2000) Curr. Opin. Genet. Dev. , vol.10 , pp. 320-324
    • Kwiatkowski, D.1
  • 126
    • 0023914891 scopus 로고
    • Detection of major genes for susceptibility to leprosy and its subtypes
    • Abel, L. & Demenais, F. Detection of major genes for susceptibility to leprosy and its subtypes. Am. J. Hum. Genet. 42, 256-266 (1988).
    • (1988) Am. J. Hum. Genet. , vol.42 , pp. 256-266
    • Abel, L.1    Demenais, F.2
  • 127
    • 0037370482 scopus 로고    scopus 로고
    • Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population
    • Mira, M. T. et al. Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nature Genet. 33, 412-415 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 412-415
    • Mira, M.T.1
  • 128
    • 0035065541 scopus 로고    scopus 로고
    • A major susceptibility locus for leprosy in India maps to chromosome 10p13
    • Siddiqui, M. R. et al. A major susceptibility locus for leprosy in India maps to chromosome 10p13. Nature Genet. 27, 439-441 (2001).
    • (2001) Nature Genet. , vol.27 , pp. 439-441
    • Siddiqui, M.R.1
  • 129
    • 0029842548 scopus 로고    scopus 로고
    • Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33
    • Marquet, S. et al. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nature Genet. 14, 181-184 (1996). The first identification of a major susceptibility region to a common infectious disease (schistosomiasis) by a genome-wide scan approach.
    • (1996) Nature Genet. , vol.14 , pp. 181-184
    • Marquet, S.1
  • 130
    • 0033362149 scopus 로고    scopus 로고
    • Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-γ receptor gene
    • Dessein, A. J. et al. Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-γ receptor gene. Am. J. Hum. Genet. 65, 709-721 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 709-721
    • Dessein, A.J.1
  • 131
    • 0038577091 scopus 로고    scopus 로고
    • Evidence for a recessive major gene predisposing to human herpesvirus 8 (HHV-8) infection in a population in which HHV-8 is endemic
    • Plancoulaine, S., Gessain, A., van Beveren, M., Tortevoye, P. & Abel, L. Evidence for a recessive major gene predisposing to human herpesvirus 8 (HHV-8) infection in a population in which HHV-8 is endemic. J. Infect. Dis. 187, 1944-1950 (2003).
    • (2003) J. Infect. Dis. , vol.187 , pp. 1944-1950
    • Plancoulaine, S.1    Gessain, A.2    Van Beveren, M.3    Tortevoye, P.4    Abel, L.5
  • 132
    • 0033836419 scopus 로고    scopus 로고
    • Detection of a major gene predisposing to human T lymphotropic virus type I infection in children among an endemic population of African origin
    • Plancoulaine, S. et al. Detection of a major gene predisposing to human T lymphotropic virus type I infection in children among an endemic population of African origin. J. Infect. Dis. 182, 405-412 (2000).
    • (2000) J. Infect. Dis. , vol.182 , pp. 405-412
    • Plancoulaine, S.1
  • 133
    • 0037317763 scopus 로고    scopus 로고
    • Innate immune sensing and its roots: The story of endotoxin
    • Beutler, B. & Rietschel, E. T. Innate immune sensing and its roots: the story of endotoxin. Nature Rev. Immunol. 3, 169-176 (2003).
    • (2003) Nature Rev. Immunol. , vol.3 , pp. 169-176
    • Beutler, B.1    Rietschel, E.T.2
  • 134
    • 0000520727 scopus 로고
    • Virus interference. I. The interferon
    • Isaacs, A. & Lindenmann, J. Virus interference. I. The interferon. Proc. R. Soc. London B 147, 258-267 (1957).
    • (1957) Proc. R. Soc. London B , vol.147 , pp. 258-267
    • Isaacs, A.1    Lindenmann, J.2
  • 135
    • 0037371835 scopus 로고    scopus 로고
    • Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
    • Dupuis, S. et al. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency. Nature Genet. 33, 388-391 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 388-391
    • Dupuis, S.1
  • 136
    • 0020502358 scopus 로고
    • Identification of interferon-γ as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity
    • Nathan, C. F. Murray, H. W. Wiebe, M. E. & Rubin, B. Y. Identification of interferon-γ as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity. J. Exp. Med. 158, 670-689 (1983).
    • (1983) J. Exp. Med. , vol.158 , pp. 670-689
    • Nathan, C.F.1    Murray, H.W.2    Wiebe, M.E.3    Rubin, B.Y.4
  • 137
    • 0024467154 scopus 로고
    • Identification and purification of natural killer cell stimulatory factor (NKSF), a cytokine with multiple biologic effects on human lymphocytes
    • Kobayashi, M. et al. Identification and purification of natural killer cell stimulatory factor (NKSF), a cytokine with multiple biologic effects on human lymphocytes. J. Exp. Med. 170, 827-845 (1989).
    • (1989) J. Exp. Med. , vol.170 , pp. 827-845
    • Kobayashi, M.1
  • 138
    • 0037313578 scopus 로고    scopus 로고
    • Interleukin-12 and the regulation of innate resistance and adaptive immunity
    • Trinchieri, G. Interleukin-12 and the regulation of innate resistance and adaptive immunity. Nature Rev. Immunol. 3, 133-146 (2003).
    • (2003) Nature Rev. Immunol. , vol.3 , pp. 133-146
    • Trinchieri, G.1
  • 139
    • 0032190081 scopus 로고    scopus 로고
    • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
    • Sayos, J. et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395, 462-469 (1998).
    • (1998) Nature , vol.395 , pp. 462-469
    • Sayos, J.1
  • 140
    • 17344372694 scopus 로고    scopus 로고
    • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
    • Coffey, A. J. et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genet 20, 129-135 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 129-135
    • Coffey, A.J.1
  • 141
    • 13144278345 scopus 로고    scopus 로고
    • Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
    • Nichols, K. E. et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc. Natl Acad. Sci. USA 95, 13765-13770 (1998). References 139-141 were the first to identify the molecular basis of an X-linked-specific susceptibility to Epstein-Barr virus, another hole in immunity to infection.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 13765-13770
    • Nichols, K.E.1
  • 142
    • 0034502381 scopus 로고    scopus 로고
    • Defects in early B-cell development: Comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse
    • Conley M. E., Rohrer, J., Rapalus, L., Boylin, E. C. & Minegishi, Y. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol. Rev. 178, 75-90 (2000).
    • (2000) Immunol. Rev. , vol.178 , pp. 75-90
    • Conley, M.E.1    Rohrer, J.2    Rapalus, L.3    Boylin, E.C.4    Minegishi, Y.5
  • 143
    • 0034064779 scopus 로고    scopus 로고
    • Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
    • Kung, C. et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nature Med. 6, 343-345 (2000).
    • (2000) Nature Med. , vol.6 , pp. 343-345
    • Kung, C.1
  • 144
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD3δ deficiency on maturation of αβ and γδ T-cell lineages in severe combined immunodeficiency
    • Dadi, H. K., Simon, A. J. & Roifman, C. M. Effect of CD3δ deficiency on maturation of αβ and γδ T-cell lineages in severe combined immunodeficiency. N. Engl. J. Med. 349, 1821-1828 (2003).
    • (2003) N. Engl. J. Med. , vol.349 , pp. 1821-1828
    • Dadi, H.K.1    Simon, A.J.2    Roifman, C.M.3


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