-
1
-
-
0030804030
-
Primary immunodeficiency diseases
-
WHO. Primary immunodeficiency diseases. Clin. Exp. Immunol. 109, 1-28 (1997).
-
(1997)
Clin. Exp. Immunol.
, vol.109
, pp. 1-28
-
-
-
2
-
-
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
-
3
-
-
0027065581
-
Genetics and resistance to tuberculosis
-
Stead, W.W. Genetics and resistance to tuberculosis. Ann. Intern. Med. 116, 937-941 (1992).
-
(1992)
Ann. Intern. Med.
, vol.116
, pp. 937-941
-
-
Stead, W.W.1
-
4
-
-
0028869497
-
Familial disseminated atypical mycobacteriaf infection in childhood: A human mycobacterial susceptibility gene?
-
Levin, M. et al. Familial disseminated atypical mycobacteriaf infection in childhood: a human mycobacterial susceptibility gene? Lancet 345, 79-83 (1995).
-
(1995)
Lancet
, vol.345
, pp. 79-83
-
-
Levin, M.1
-
5
-
-
0029116172
-
Immunological conditions of children with BCG disseminated infection
-
Casanova, J.L., Jouanguy, E., Lamhamedi, S., Blanche, S. & Fischer, A. Immunological conditions of children with BCG disseminated infection. Lancet 346, 581 (1995).
-
(1995)
Lancet
, vol.346
, pp. 581
-
-
Casanova, J.L.1
Jouanguy, E.2
Lamhamedi, S.3
Blanche, S.4
Fischer, A.5
-
6
-
-
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
-
7
-
-
0029927301
-
Defective monocyte costimulation for IFN-γ production in familial disseminated mycobacterium avium complex infection: Abnormal IL-12 regulation
-
Frucht, D.M. & Holland, S.M. Defective monocyte costimulation for IFN-γ production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J. Immunol. 157, 411-416 (1996).
-
(1996)
J. Immunol.
, vol.157
, pp. 411-416
-
-
Frucht, D.M.1
Holland, S.M.2
-
9
-
-
0031038855
-
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection
-
Emile, J.F. et al. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J. Pathol. 181, 25-30 (1997).
-
(1997)
J. Pathol.
, vol.181
, pp. 25-30
-
-
Emile, J.F.1
-
10
-
-
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
-
11
-
-
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).
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1956-1961
-
-
Jouanguy, E.1
-
12
-
-
0030934873
-
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon γ receptor deficiency
-
Pierre-Audigier, C. et al. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon γ receptor deficiency. Clin. Infect. Dis. 24, 982-984 (1997).
-
(1997)
Clin. Infect. Dis.
, vol.24
, pp. 982-984
-
-
Pierre-Audigier, C.1
-
13
-
-
0031970784
-
A causative relationship between mutant IFNγR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child
-
Altare, F. et al. A causative relationship between mutant IFNγR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child. Am. J. Hum. Genet. 62, 723-726 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 723-726
-
-
Altare, F.1
-
14
-
-
17344365404
-
Abnormal regulation of interferon γ, interleukin 12, and tumor necrosis factor α in interferon γ receptor 1 deficiency
-
Holland, S.A. et al. Abnormal regulation of interferon γ, interleukin 12, and tumor necrosis factor α in interferon γ receptor 1 deficiency. J. Infect. Dis. 178, 1095-1104 (1998).
-
(1998)
J. Infect. Dis.
, vol.178
, pp. 1095-1104
-
-
Holland, S.A.1
-
15
-
-
0345264568
-
Recurrent mycobacterial and listeria infections in a child with interferon γ receptor deficiency
-
in press
-
Roesler, J. et al. Recurrent mycobacterial and listeria infections in a child with interferon γ receptor deficiency. Exp. Haematol. (in press).
-
Exp. Haematol.
-
-
Roesler, J.1
-
16
-
-
0030889207
-
The interferon γ receptor: A paradigm for cytokine receptor signaling
-
Bach, E., Aguet, M. & Schreiber, R.D. The interferon γ receptor: a paradigm for cytokine receptor signaling. Annu. Rev. Immunol. 15, 563-591 (1997).
-
(1997)
Annu. Rev. Immunol.
, vol.15
, pp. 563-591
-
-
Bach, E.1
Aguet, M.2
Schreiber, R.D.3
-
17
-
-
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).
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 2658-2664
-
-
Jouanguy, E.1
-
18
-
-
0030881918
-
Infections in IFNGR-1-deficient children
-
Jouanguy, E., Altare, F., Lamhamedi-Cherradi, S. & Casanova, J.L. Infections in IFNGR-1-deficient children. J. Interferon Cytokine Res. 17, 583-587 (1997).
-
(1997)
J. Interferon Cytokine Res.
, vol.17
, pp. 583-587
-
-
Jouanguy, E.1
Altare, F.2
Lamhamedi-Cherradi, S.3
Casanova, J.L.4
-
19
-
-
0031987928
-
Interferon γ receptor deficiency: Relationship between genotype, environment, and phenotype
-
Lamhamedi, S., Jouanguy, E., Altare, F., Roesler, J. & Casanova, J.L. Interferon γ receptor deficiency: relationship between genotype, environment, and phenotype. Int. J. Mol. Med. 1, 415-418 (1998).
-
(1998)
Int. J. Mol. Med.
, vol.1
, pp. 415-418
-
-
Lamhamedi, S.1
Jouanguy, E.2
Altare, F.3
Roesler, J.4
Casanova, J.L.5
-
20
-
-
0032103249
-
Mutation in the signal-transducing chain of the interferon-γ receptor and susceptibility to mycobacterial infection
-
Dorman, S.E. & Holland, S.M. Mutation in the signal-transducing chain of the interferon-γ receptor and susceptibility to mycobacterial infection. J. Clin. Invest. 101, 2364-2369 (1998).
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 2364-2369
-
-
Dorman, S.E.1
Holland, S.M.2
-
21
-
-
0032535370
-
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin infection
-
Altare, F. et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin infection. J. Clin. Invest. 102, 2035-2040 (1998).
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 2035-2040
-
-
Altare, F.1
-
22
-
-
18244428735
-
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
-
Altare, F. et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280, 1432-1435 (1998).
-
(1998)
Science
, vol.280
, pp. 1432-1435
-
-
Altare, F.1
-
23
-
-
0032577295
-
Severe mycobacterial and salmonella infections in interleukin-12 receptor-deficient patients
-
de Jong, R. et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280, 1435-1438 (1998).
-
(1998)
Science
, vol.280
, pp. 1435-1438
-
-
De Jong, R.1
-
24
-
-
8244249465
-
The gene for the ligand-binding chain of the human IFNγ receptor
-
Merlin, G. et al. The gene for the ligand-binding chain of the human IFNγ receptor. Immunogenetics 45, 413-421 (1997).
-
(1997)
Immunogenetics
, vol.45
, pp. 413-421
-
-
Merlin, G.1
-
25
-
-
0023685684
-
Molecular cloning and expression of the human IFNγ receptor
-
Aguet, M., Dembic, Z. & Merlin, G. Molecular cloning and expression of the human IFNγ receptor. Cell 55, 273-280 (1988).
-
(1988)
Cell
, vol.55
, pp. 273-280
-
-
Aguet, M.1
Dembic, Z.2
Merlin, G.3
-
26
-
-
0027295745
-
A suggested nomenclature for designating mutations
-
Beaudet, A.L. & Tsui, L.C. A suggested nomenclature for designating mutations. Hum. Mut. 2, 245-248 (1993).
-
(1993)
Hum. Mut.
, vol.2
, pp. 245-248
-
-
Beaudet, A.L.1
Tsui, L.C.2
-
27
-
-
0026002416
-
Identification of two regions within the cytoplasmic domain of the human IFNγ receptor required for function
-
Farrar, M.A., Fernandez-Luna, J. & Schreiber, R.D. Identification of two regions within the cytoplasmic domain of the human IFNγ receptor required for function. J. Biol. Chem. 266, 19626-19635 (1991).
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 19626-19635
-
-
Farrar, M.A.1
Fernandez-Luna, J.2
Schreiber, R.D.3
-
28
-
-
0028175454
-
Ligand-induced IFNγ receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91)
-
Greenlund, A.C., Farrar, M.A., Viviano, B.L. & Schreiber, R.D. Ligand-induced IFNγ receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91). EMBO J. 13, 1591-1600 (1994).
-
(1994)
EMBO J.
, vol.13
, pp. 1591-1600
-
-
Greenlund, A.C.1
Farrar, M.A.2
Viviano, B.L.3
Schreiber, R.D.4
-
29
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. & Cooper, D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86, 425-441 (1991).
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
30
-
-
0002867081
-
Gene deletions
-
(eds Krawczak, M. & Cooper, D.N.) Bios Scientific Publishers, Oxford
-
Krawczak, M. & Cooper, D.N. Gene deletions. in Human Gene Mutations (eds Krawczak, M. & Cooper, D.N.) 163-208 (Bios Scientific Publishers, Oxford, 1993).
-
(1993)
Human Gene Mutations
, pp. 163-208
-
-
Krawczak, M.1
Cooper, D.N.2
-
31
-
-
0002591061
-
The nature and mechanisms of human gene mutation
-
(eds Vogelstein, B. & Kinzler, K.W.) McGraw-Hill, New York
-
Cooper, D.N., Krawczak, M. & Antonarakis, S.E. The nature and mechanisms of human gene mutation. in The Genetic Basis of Cancer (eds Vogelstein, B. & Kinzler, K.W.) 65-95 (McGraw-Hill, New York, 1998).
-
(1998)
The Genetic Basis of Cancer
, pp. 65-95
-
-
Cooper, D.N.1
Krawczak, M.2
Antonarakis, S.E.3
-
32
-
-
0018933975
-
The structure and evolution of the human β-globin gene family
-
Efstratiadis, A. et al. The structure and evolution of the human β-globin gene family. Cell 21, 653-668 (1980).
-
(1980)
Cell
, vol.21
, pp. 653-668
-
-
Efstratiadis, A.1
-
33
-
-
0025944584
-
Recurrent deletion in the human antithrombin III gene
-
Grundy, C.B. et al. Recurrent deletion in the human antithrombin III gene. Blood 78, 1027-1032 (1991).
-
(1991)
Blood
, vol.78
, pp. 1027-1032
-
-
Grundy, C.B.1
-
34
-
-
0020490330
-
Specific sequences in native DNA that arrest synthesis by DNA polymerase α
-
Weaver, D.T. & DePamphilis, M.L. Specific sequences in native DNA that arrest synthesis by DNA polymerase α. J. Biol. Chem. 257, 2075-2086 (1982).
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 2075-2086
-
-
Weaver, D.T.1
DePamphilis, M.L.2
-
35
-
-
0027263967
-
Inhibition of cellular responsiveness to IFNγ induced by overexpression of inactive forms of the IFNγ receptor
-
Dighe, A.S., Farrar, M.A. & Schreiber, R.D. Inhibition of cellular responsiveness to IFNγ induced by overexpression of inactive forms of the IFNγ receptor. J. Biol. Chem. 268, 10645-10653 (1993).
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 10645-10653
-
-
Dighe, A.S.1
Farrar, M.A.2
Schreiber, R.D.3
-
36
-
-
0028500836
-
Enhanced in vivo growth and resistance to rejection of tumor cells expressing dominant negative IFNγ receptors
-
Dighe, A.S., Richards, E., Old, L.J. & Schreiber, R.D. Enhanced in vivo growth and resistance to rejection of tumor cells expressing dominant negative IFNγ receptors. Immunity 1, 447-456 (1994).
-
(1994)
Immunity
, vol.1
, pp. 447-456
-
-
Dighe, A.S.1
Richards, E.2
Old, L.J.3
Schreiber, R.D.4
-
37
-
-
0028811499
-
Tissue-specific targeting of cytokine unresponsiveness in transgenic mice
-
Dighe, A.S. et al. Tissue-specific targeting of cytokine unresponsiveness in transgenic mice. Immunity 3, 657-666 (1995).
-
(1995)
Immunity
, vol.3
, pp. 657-666
-
-
Dighe, A.S.1
-
38
-
-
17344383269
-
Tumor cell responses to IFNγ affect tumorigenicity and response to IL-12 therapy and angiogenesis
-
Coughlin, C.M. et al. Tumor cell responses to IFNγ affect tumorigenicity and response to IL-12 therapy and angiogenesis. Immunity 9, 25-34 (1988).
-
(1988)
Immunity
, vol.9
, pp. 25-34
-
-
Coughlin, C.M.1
-
39
-
-
0029671421
-
Identification of an IFNγ receptor γ chain sequence required for JAK-1 binding
-
Kaplan, D.H., Greenlund, A.C., Tanner, J.W., Shaw, S. & Schreiber, R.D. Identification of an IFNγ receptor γ chain sequence required for JAK-1 binding. J. Biol. Chem. 271, 9-12 (1996).
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 9-12
-
-
Kaplan, D.H.1
Greenlund, A.C.2
Tanner, J.W.3
Shaw, S.4
Schreiber, R.D.5
-
40
-
-
0027048766
-
Identification of a functionally important sequence motif in the carboxy terminus of the IFNγ receptor
-
Farrar, M.A., Campbell, J.D. & Schreiber, R.D. Identification of a functionally important sequence motif in the carboxy terminus of the IFNγ receptor. Proc. Natl Acad. Sci. USA 89, 11706-11710 (1992).
-
(1992)
Proc. Natl Acad. Sci. USA
, vol.89
, pp. 11706-11710
-
-
Farrar, M.A.1
Campbell, J.D.2
Schreiber, R.D.3
-
41
-
-
0032146727
-
Mendelian susceptibility to mycobacterial infections in man
-
Altare, F. et al. Mendelian susceptibility to mycobacterial infections in man. Curr. Opin. Immunol. 10, 413-417 (1998).
-
(1998)
Curr. Opin. Immunol.
, vol.10
, pp. 413-417
-
-
Altare, F.1
-
42
-
-
0032213010
-
Novel immunodeficiencies reveal the essential role of type 1 cytokines in immunity to intracellular bacteria
-
Ottenhoff, T., Kumararatne, D. & Casanova, J.L. Novel immunodeficiencies reveal the essential role of type 1 cytokines in immunity to intracellular bacteria. Immunol. Today 19, 491-494 (1998).
-
(1998)
Immunol. Today
, vol.19
, pp. 491-494
-
-
Ottenhoff, T.1
Kumararatne, D.2
Casanova, J.L.3
-
43
-
-
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
-
44
-
-
0014257733
-
Disseminated infection with Mycobacterium avium: I. Clinical features, treatment and pathology
-
Schonell, M.E., Crofton, J.W., Stuart, A.E. & Wallace, A. Disseminated infection with Mycobacterium avium: I. Clinical features, treatment and pathology. Tubercle 49, 12-30 (1968).
-
(1968)
Tubercle
, vol.49
, pp. 12-30
-
-
Schonell, M.E.1
Crofton, J.W.2
Stuart, A.E.3
Wallace, A.4
-
45
-
-
0017297877
-
Generalisatio BCG familiaris semibenigna, Osteomyelitis salmonellosa und Pseudotuberculosis intestinalis-Folgen eines familiären Makrophagen-defektes
-
Heyne, K. Generalisatio BCG familiaris semibenigna, Osteomyelitis salmonellosa und Pseudotuberculosis intestinalis-Folgen eines familiären Makrophagen-defektes. Eur. J. Pediatr. 121, 179-189 (1976).
-
(1976)
Eur. J. Pediatr.
, vol.121
, pp. 179-189
-
-
Heyne, K.1
-
46
-
-
0028104257
-
Multifocal M. intracellular osteomyelitis in an immunocompetent child
-
Raszka, W.V., Trinh, T.T. & Zawadsky, P.M. Multifocal M. intracellular osteomyelitis in an immunocompetent child. Clin. Pediatr. 33, 611-614 (1994).
-
(1994)
Clin. Pediatr.
, vol.33
, pp. 611-614
-
-
Raszka, W.V.1
Trinh, T.T.2
Zawadsky, P.M.3
-
47
-
-
9344257897
-
Ligand-induced assembly and activation of the γ interferon receptor in intact cells
-
Bach, E. et al. Ligand-induced assembly and activation of the γ interferon receptor in intact cells. Mol. Cell. Biol. 16, 3214-3221 (1996).
-
(1996)
Mol. Cell. Biol.
, vol.16
, pp. 3214-3221
-
-
Bach, E.1
-
48
-
-
0023782866
-
Generation and characterization of monoclonal antibodies specific for the human IFNγ receptor
-
Sheehan, K.C.F., Calderon, J. & Schreiber, R.D. Generation and characterization of monoclonal antibodies specific for the human IFNγ receptor. J. Immunol. 140, 4231-4237 (1988).
-
(1988)
J. Immunol.
, vol.140
, pp. 4231-4237
-
-
Sheehan, K.C.F.1
Calderon, J.2
Schreiber, R.D.3
-
49
-
-
0022338085
-
Demonstration and partial characterization of the interferon-γ receptor on human mononuclear phagocytes
-
Celada, A., Allen, R., Esparza, I., Gray, P.W. & Schreiber, R.D. Demonstration and partial characterization of the interferon-γ receptor on human mononuclear phagocytes. J. Clin. Invest. 76, 2196-2205 (1985).
-
(1985)
J. Clin. Invest.
, vol.76
, pp. 2196-2205
-
-
Celada, A.1
Allen, R.2
Esparza, I.3
Gray, P.W.4
Schreiber, R.D.5
-
50
-
-
0028923465
-
Recommendations for standardized human pedigree nomenclature
-
Bennett, R.L. et al. Recommendations for standardized human pedigree nomenclature. Am. J. Hum. Genet. 56, 745-752 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.56
, pp. 745-752
-
-
Bennett, R.L.1
|