-
3
-
-
0242581687
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
24
-
-
0029414784
-
Immune defence in mice lacking ype I and/or type II interferon receptors
-
van den Broek, M. F., Müller, U., Huang, S., Zinkernagel, R. M. & Aguet, M. Immune defence in mice lacking ype I and/or type II interferon receptors. Immunol. Rev. 148, 5-18 (1995).
-
(1995)
Immunol. Rev.
, vol.148
, pp. 5-18
-
-
Van Den Broek, M.F.1
Müller, U.2
Huang, S.3
Zinkernagel, R.M.4
Aguet, M.5
-
25
-
-
0036800367
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
55
-
-
0003600512
-
-
(ed. Wimmer, E.) (Cold Spring Harbor Laboratory Press, New York
-
Holmes, K. V. & Dveksler, G. S. in Cellular Receptors for Animal Viruses (ed. Wimmer, E.) 403-443 (Cold Spring Harbor Laboratory Press, New York, 1994).
-
(1994)
Cellular Receptors for Animal Viruses
, pp. 403-443
-
-
Holmes, K.V.1
Dveksler, G.S.2
-
56
-
-
0034755162
-
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
-
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
-
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
-
60
-
-
0004233303
-
-
W. B. Saunders Company, Philadelphia, USA
-
Gorbach, S. L., Barlett, J. G. & Blacklow, N. R. Infectious Diseases (W. B. Saunders Company, Philadelphia, USA, 1998).
-
(1998)
Infectious Diseases
-
-
Gorbach, S.L.1
Barlett, J.G.2
Blacklow, N.R.3
-
61
-
-
0035368519
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
88
-
-
0033838822
-
TAP deficiency syndrome
-
Gadola, S. D., Moins-Teisserenc, H. T., Trowsdale, J., Gross, W. L. & Cerundolo, V. TAP deficiency syndrome. Clin. Exp. Immunol. 121, 173-178 (2000).
-
(2000)
Clin. Exp. Immunol.
, vol.121
, pp. 173-178
-
-
Gadola, S.D.1
Moins-Teisserenc, H.T.2
Trowsdale, J.3
Gross, W.L.4
Cerundolo, V.5
-
89
-
-
0037103321
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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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