-
3
-
-
0035162061
-
A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency
-
(2001)
Clin Diagn Lab Immunol
, vol.8
, pp. 133-137
-
-
Allende, L.M.1
Lopez-Goyanes, A.2
Paz-Artal, E.3
Corell, A.4
Garcia-Perez, M.A.5
Varela, P.6
Scarpellini, A.7
Negreira, S.8
Palenque, E.9
Arnaiz-Villena, A.10
-
4
-
-
18244428735
-
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
-
(1998)
Science
, vol.280
, pp. 1432-1435
-
-
Altare, F.1
Durandy, A.2
Lammas, D.3
Emile, J.F.4
Lamhamedi, S.5
Le Deist, F.6
Drysdale, P.7
Jouanguy, E.8
Döffinger, R.9
Bernaudin, F.10
Jeppsson, O.11
Gollob, J.A.12
Meinl, E.13
Segal, A.W.14
Fischer, A.15
Kumararatne, D.16
Casanova, J.L.17
-
5
-
-
0035879825
-
IL-12 deficiency in a patient with abdominal tuberculosis
-
(2001)
J Infect Dis
, vol.184
, pp. 231-236
-
-
Altare, F.1
Ensser, A.2
Breiman, A.3
Reichenbach, J.4
El Baghdadi, J.5
Fischer, A.6
Emile, J.F.7
Gaillard, J.L.8
Casanova, J.L.9
-
6
-
-
0031970784
-
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child
-
(1998)
Am J Hum Genet
, vol.62
, pp. 723-726
-
-
Altare, F.1
Jouanguy, E.2
Lamhamedi-Cherradi, S.3
Fondaneche, M.C.4
Fizame, C.5
Ribierre, F.6
Merlin, G.7
Dembic, Z.8
Schreiber, R.9
Lisowska-Grospierre, B.10
Fischer, A.11
Seboun, E.12
Casanova, J.L.13
-
7
-
-
0032535370
-
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
-
(1998)
J Clin Invest
, vol.102
, pp. 2035-2040
-
-
Altare, F.1
Lammas, D.2
Revy, P.3
Jouanguy, E.4
Döffinger, R.5
Lamhamedi, S.6
Drysdale, P.7
Scheel-Toellner, D.8
Girdlestone, J.9
Darbyshire, P.10
Wadhwa, M.11
Dockrell, H.12
Salmon, M.13
Fischer, A.14
Durandy, A.15
Casanova, J.L.16
Kumararatne, D.S.17
-
8
-
-
0029838301
-
Idiopathic disseminated bacillus Calmette-Guérin infection: A French national retrospective study
-
(1996)
Pediatrics
, vol.98
, pp. 774-778
-
-
Casanova, J.L.1
Blanche, S.2
Emile, J.F.3
Jouanguy, E.4
Lamhamedi, S.5
Altare, F.6
Stephan, J.L.7
Bernaudin, F.8
Bordigoni, P.9
Turck, D.10
Lachaux, A.11
Albertini, M.12
Bourrillon, A.13
Dommergues, J.P.14
Pocidalo, M.A.15
Le Deist, F.16
Gaillard, J.L.17
Griscelli, C.18
Fischer, A.19
-
12
-
-
0031707741
-
Interleukin-12 is essential for a protective Th1 response in mice infected with Cryptococcus neoformans
-
(1998)
Infect Immun
, vol.66
, pp. 4994-5000
-
-
Decken, K.1
Kohler, G.2
Palmer-Lehmann, K.3
Wunderlin, A.4
Mattner, F.5
Magram, J.6
Gately, M.K.7
Alber, G.8
-
13
-
-
0032577295
-
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
-
(1998)
Science
, vol.280
, pp. 1435-1438
-
-
De Jong, R.1
Altare, F.2
Haagen, I.A.3
Elferink, D.G.4
Boer, T.5
Van Breda Vriesman, P.J.6
Kabel, P.J.7
Draaisma, J.M.8
Van Dissel, J.T.9
Kroon, F.P.10
Casanova, J.L.11
Ottenhoff, T.H.12
-
14
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
15
-
-
0033967256
-
Partial interferon-γ receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection
-
(2000)
J Infect Dis
, vol.181
, pp. 379-384
-
-
Döffinger, R.1
Jouanguy, E.2
Dupuis, S.3
Fondanèche, M.C.4
Stephan, J.L.5
Emile, J.F.6
Lamhamedi-Cherradi, S.7
Altare, F.8
Pallier, A.9
Barcenas-Morales, G.10
Meinl, E.11
Krause, C.12
Pestka, S.13
Schreiber, R.D.14
Novelli, F.15
Casanova, J.L.16
-
17
-
-
0032103249
-
Mutation in the signal-transducing chain of the interferon-γ receptor and susceptibility to mycobacterial infection
-
(1998)
J Clin Invest
, vol.101
, pp. 2364-2369
-
-
Dorman, S.E.1
Holland, S.M.2
-
19
-
-
0033497350
-
Viral infections in interferon-γ receptor deficiency
-
(1999)
J Pediatr
, vol.135
, pp. 640-643
-
-
Dorman, S.E.1
Uzel, G.2
Roesler, J.3
Bradley, J.S.4
Bastian, J.5
Billman, G.6
King, S.7
Filie, A.8
Schermerhorn, J.9
Holland, S.M.10
-
21
-
-
0035854542
-
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
-
(2001)
Science
, vol.293
, pp. 300-303
-
-
Dupuis, S.1
Dargemont, C.2
Fieschi, C.3
Thomassin, N.4
Rozenzweig, S.5
Harris, J.6
Holand, S.M.7
Schreiber, R.D.8
Casanova, J.L.9
-
22
-
-
0034500805
-
Human interferon-γ-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion
-
(2000)
Immunol Rev
, vol.178
, pp. 129-137
-
-
Dupuis, S.1
Döffinger, R.2
Picard, C.3
Fieschi, C.4
Altare, F.5
Jouanguy, E.6
Abel, L.7
Casanova, J.L.8
-
24
-
-
0031038855
-
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection
-
(1997)
J Pathol
, vol.181
, pp. 25-30
-
-
Emile, J.F.1
Patey, N.2
Altare, F.3
Lamhamedi, S.4
Jouanguy, E.5
Boman, F.6
Quillard, J.7
Lecomte-Houcke, M.8
Verola, O.9
Mousnier, J.F.10
Dijoud, F.11
Blanche, S.12
Fischer, A.13
Brousse, N.14
Casanova, J.L.15
-
25
-
-
0029927301
-
Defective monocyte costimulation for IFN-γ production in familial disseminated Mycobacterium avium complex infection: Abnormal IL-12 regulation
-
(1996)
J Immunol
, vol.157
, pp. 411-416
-
-
Frucht, D.M.1
Holland, S.M.2
-
27
-
-
0030828850
-
Estimating the age of mutant disease alleles based on linkage disequilibrium
-
(1997)
Hum Hered
, vol.47
, pp. 315-337
-
-
Guo, S.W.1
Xiong, M.2
-
28
-
-
17344365404
-
Abnormal regulation of interferon-γ, interleukin-12, and tumor necrosis factor-α in human interferon-γ receptor 1 deficiency
-
(1998)
J Infect Dis
, vol.178
, pp. 1095-1104
-
-
Holland, S.M.1
Dorman, S.E.2
Kwon, A.3
Pitha-Rowe, I.F.4
Frucht, D.M.5
Gerstberger, S.M.6
Noel, G.J.7
Vesterhus, P.8
Brown, M.R.9
Fleisher, T.A.10
-
29
-
-
0030455878
-
Interferon-γ-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection
-
(1996)
N Engl J Med
, vol.335
, pp. 1956-1961
-
-
Jouanguy, E.1
Altare, F.2
Lamhamedi, S.3
Revy, P.4
Emile, J.F.5
Newport, M.6
Levin, M.7
Blanche, S.8
Seboun, E.9
Fischer, A.10
Casanova, J.L.11
-
30
-
-
0034067449
-
In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ
-
(2000)
J Clin Invest
, vol.105
, pp. 1429-1436
-
-
Jouanguy, E.1
Dupuis, S.2
Pallier, A.3
Döffinger, R.4
Fondanèche, M.C.5
Fieschi, C.6
Lamhamedi-Cherradi, S.7
Altare, F.8
Emile, J.F.9
Lutz, P.10
Bordigoni, P.11
Cokugras, H.12
Akcakaya, N.13
Landman-Parker, J.14
Donnadieu, J.15
Camcioglu, Y.16
Casanova, J.L.17
-
31
-
-
0031468410
-
Partial interferon-γ receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis
-
(1997)
J Clin Invest
, vol.100
, pp. 2658-2664
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Altare, F.3
Fondanèche, M.C.4
Tuerlinckx, D.5
Blanche, S.6
Emile, J.F.7
Gaillard, J.L.8
Schreiber, R.D.9
Levin, M.10
Fischer, A.11
Hivroz, C.12
Casanova, J.L.13
-
32
-
-
0032948177
-
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
-
(1999)
Nat Genet
, vol.21
, pp. 370-378
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Lammas, D.3
Dorman, S.E.4
Fondanèche, M.C.5
Dupuis, S.6
Döffinger, R.7
Altare, F.8
Girdlestone, J.9
Emile, J.F.10
Ducoulombier, H.11
Edgar, D.12
Clarke, J.13
Oxelius, V.A.14
Brai, M.15
Novelli, F.16
Heyne, K.17
Fischer, A.18
Holland, S.M.19
Kumararatne, D.S.20
Schreiber, R.D.21
Casanova, J.L.22
more..
-
33
-
-
0028869497
-
Familial disseminated atypical mycobacterial infection in childhood: A human mycobacterial susceptibility gene?
-
(1995)
Lancet
, vol.345
, pp. 79-83
-
-
Levin, M.1
Newport, M.J.2
D'Souza, S.3
Kalabalikis, P.4
Brown, I.N.5
Lenicker, H.M.6
Agius, P.V.7
Davies, E.G.8
Thrasher, A.9
Klein, N.10
Blackwell, J.M.11
-
34
-
-
16044363695
-
IL-12-deficient mice are defective in IFNγ production and type 1 cytokine responses
-
(1996)
Immunity
, vol.4
, pp. 471-481
-
-
Magram, J.1
Connaughton, S.E.2
Warrier, R.R.3
Carvajal, D.M.4
Wu, C.Y.5
Ferrante, J.6
Stewart, C.7
Sarmiento, U.F.8
Faherty, D.A.9
Gately, M.K.10
-
35
-
-
0030002111
-
Genetically resistant mice lacking interleukin-12 are susceptible to infection with Leishmania major and mount a polarized Th2 cell response
-
(1996)
Eur J Immunol
, vol.26
, pp. 1553-1559
-
-
Mattner, F.1
Magram, J.2
Ferrante, J.3
Launois, P.4
Di Padova, K.5
Behin, R.6
Gately, M.K.7
Louis, J.A.8
Alber, G.9
-
37
-
-
0033358667
-
Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping
-
(1999)
Am J Hum Genet
, vol.65
, pp. 858-875
-
-
McPeek, M.S.1
Strahs, A.2
-
40
-
-
0033638507
-
Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12
-
(2000)
Immunity
, vol.13
, pp. 715-725
-
-
Oppmann, B.1
Lesley, R.2
Blom, B.3
Timans, J.C.4
Xu, Y.5
Hunte, B.6
Vega, F.7
-
41
-
-
10544243791
-
A founder mutation in the γ-sarcoglycan gene of gypsies possibly predating their migration out of India
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2019-2022
-
-
Piccolo, F.1
Jeanpierre, M.2
Leturcq, F.3
Dodé, C.4
Azibi, K.5
Toutain, A.6
Merlini, L.7
Jarre, L.8
Navarro, C.9
Krishnamoorthy, R.10
Tomé, F.M.11
Urtizberea, J.A.12
Beckmann, J.S.13
Campbell, K.P.14
Kaplan, J.C.15
-
42
-
-
0030934873
-
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon γ receptor deficiency
-
(1997)
Clin Infect Dis
, vol.24
, pp. 982-984
-
-
Pierre-Audigier, C.1
Jouanguy, E.2
Lamhamedi, S.3
Altare, F.4
Rauzier, J.5
Vincent, V.6
Canioni, D.7
Emile, J.F.8
Fischer, A.9
Blanche, S.10
Gaillard, J.L.11
Casanova, J.L.12
-
43
-
-
0032819175
-
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-γ-receptor (IFNγR1) deficiency: Mutational analysis and evaluation of therapeutic options
-
(1999)
Exp Hematol
, vol.27
, pp. 1368-1374
-
-
Roesler, J.1
Kofink, B.2
Wendisch, J.3
Heyden, S.4
Paul, D.5
Friedrich, W.6
Casanova, J.L.7
Leupold, W.8
Gahr, M.9
Rosen-Wolff, A.10
-
47
-
-
0033490502
-
Interleukin-12: A cytokine at the interface of inflammation and immunity
-
(1998)
Adv Immunol
, vol.70
, pp. 83-243
-
-
Trinchieri, G.1
-
49
-
-
0034698827
-
Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor β1 (IL-12Rβ1): Evidence for an IL-12Rβ1-independent pathway of IL-12 responsiveness in human T cells
-
(2000)
J Exp Med
, vol.192
, pp. 517-528
-
-
Verhagen, C.E.1
De Boer, T.2
Smits, H.H.3
Verreck, F.A.4
Wierenga, E.A.5
Kurimoto, M.6
Lammas, D.A.7
Kumararatne, D.S.8
Sanal, O.9
Kroon, F.P.10
Van Dissel, J.T.11
Sinigaglia, F.12
Ottenhoff, T.H.13
-
50
-
-
17544386328
-
Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation
-
(2001)
Pediatrics
, vol.107
, pp. e47
-
-
Villella, A.1
Picard, C.2
Jouanguy, E.3
Dupuis, S.4
Popko, S.5
Abughali, N.6
Meyerson, H.7
Casanova, J.L.8
Hostoffer, R.W.9
-
51
-
-
0032526925
-
Lack of both type 1 and 2 cytokines, tissue inflammatory responses, and immune protection during pulmonary infection by Mycobacterium bovis bacille Calmette-Guérin in IL-12-deficient mice
-
(1998)
J Immunol
, vol.160
, pp. 6101-6111
-
-
Wakeham, J.W.J.1
Magram, J.2
Croitoru, K.3
Harkness, R.4
Dunn, P.5
Zganiacz, A.6
Xing, Z.7
|