-
1
-
-
39249084392
-
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases
-
Bustamante J., Boisson-Dupuis S., Jouanguy E., Picard C., Puel A., Abel L., et al. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr Opin Immunol 2008, 20(1):39-48.
-
(2008)
Curr Opin Immunol
, vol.20
, Issue.1
, pp. 39-48
-
-
Bustamante, J.1
Boisson-Dupuis, S.2
Jouanguy, E.3
Picard, C.4
Puel, A.5
Abel, L.6
-
2
-
-
0036158322
-
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
-
Picard C., Fieschi C., Altare F., Al Jumaah S., Al Hajjar S., Feinberg J., et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002, 70(2):336-348.
-
(2002)
Am J Hum Genet
, vol.70
, Issue.2
, pp. 336-348
-
-
Picard, C.1
Fieschi, C.2
Altare, F.3
Al Jumaah, S.4
Al Hajjar, S.5
Feinberg, J.6
-
3
-
-
0033497350
-
Viral infections in interferon-g receptor deficiency
-
Dorman S.E., Uzel G., Roesler J., Bradley J.S., Bastian J., Billman G., et al. Viral infections in interferon-g receptor deficiency. J Pediatr 1999, 135(5):640-643.
-
(1999)
J Pediatr
, vol.135
, Issue.5
, pp. 640-643
-
-
Dorman, S.E.1
Uzel, G.2
Roesler, J.3
Bradley, J.S.4
Bastian, J.5
Billman, G.6
-
4
-
-
0032819175
-
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-g-receptor (IFNgR1) deficiency: mutational analysis and evaluation of therapeutic options
-
Roesler J., Kofink B., Wendisch J., Heyden S., Paul D., Friedrich W., et al. Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-g-receptor (IFNgR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol 1999, 27(9):1368-1374.
-
(1999)
Exp Hematol
, vol.27
, Issue.9
, pp. 1368-1374
-
-
Roesler, J.1
Kofink, B.2
Wendisch, J.3
Heyden, S.4
Paul, D.5
Friedrich, W.6
-
5
-
-
84858764657
-
Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene
-
Jirapongsananuruk O., Luangwedchakarn V., Niemela J.E., Pacharn P., Visitsunthorn N., Thepthai C., et al. Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene. Asian Pac J Allergy Immunol 2012, 30(1):79-82.
-
(2012)
Asian Pac J Allergy Immunol
, vol.30
, Issue.1
, pp. 79-82
-
-
Jirapongsananuruk, O.1
Luangwedchakarn, V.2
Niemela, J.E.3
Pacharn, P.4
Visitsunthorn, N.5
Thepthai, C.6
-
6
-
-
0030467174
-
A mutation in the interferon-g-receptor gene and susceptibility to mycobacterial infection
-
Newport M.J., Huxley C.M., Huston S., Harylowicz C.M., Oostra B.A., Williamson R., et al. A mutation in the interferon-g-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 335(26):1941-1949.
-
(1996)
N Engl J Med
, vol.335
, Issue.26
, pp. 1941-1949
-
-
Newport, M.J.1
Huxley, C.M.2
Huston, S.3
Harylowicz, C.M.4
Oostra, B.A.5
Williamson, R.6
-
7
-
-
84855328689
-
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases
-
Bustamante J., Picard C., Boisson-Dupuis S., Abel L., Casanova J.L. Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. Ann N Y Acad Sci 2011, 1246:92-101.
-
(2011)
Ann N Y Acad Sci
, vol.1246
, pp. 92-101
-
-
Bustamante, J.1
Picard, C.2
Boisson-Dupuis, S.3
Abel, L.4
Casanova, J.L.5
-
8
-
-
84866748115
-
Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency
-
Bogunovic D., Byun M., Durfee L.A., Abhyankar A., Sanal O., Mansouri D., et al. Mycobacterial disease and impaired IFN-g immunity in humans with inherited ISG15 deficiency. Science 2012, 337(6102):1684-1688.
-
(2012)
Science
, vol.337
, Issue.6102
, pp. 1684-1688
-
-
Bogunovic, D.1
Byun, M.2
Durfee, L.A.3
Abhyankar, A.4
Sanal, O.5
Mansouri, D.6
-
9
-
-
79960219807
-
IRF8 mutations and human dendritic-cell immunodeficiency
-
Hambleton S., Salem S., Bustamante J., Bigley V., Boisson-Dupuis S., Azevedo J., et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 2011, 365(2):127-138.
-
(2011)
N Engl J Med
, vol.365
, Issue.2
, pp. 127-138
-
-
Hambleton, S.1
Salem, S.2
Bustamante, J.3
Bigley, V.4
Boisson-Dupuis, S.5
Azevedo, J.6
-
10
-
-
84860015114
-
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
-
Kilic S.S., Hacimustafaoglu M., Boisson-Dupuis S., Kreins A.Y., Grant A.V., Abel L., et al. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr 2012, 160(6):1055-1057.
-
(2012)
J Pediatr
, vol.160
, Issue.6
, pp. 1055-1057
-
-
Kilic, S.S.1
Hacimustafaoglu, M.2
Boisson-Dupuis, S.3
Kreins, A.Y.4
Grant, A.V.5
Abel, L.6
-
11
-
-
33845897463
-
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
-
Minegishi Y., Saito M., Morio T., Watanabe K., Agematsu K., Tsuchiya S., et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25(5):745-755.
-
(2006)
Immunity
, vol.25
, Issue.5
, pp. 745-755
-
-
Minegishi, Y.1
Saito, M.2
Morio, T.3
Watanabe, K.4
Agematsu, K.5
Tsuchiya, S.6
-
12
-
-
70349989030
-
Genetic deficiencies of innate immune signalling in human infectious disease
-
van de Vosse E., van Dissel J.T., Ottenhoff T.H. Genetic deficiencies of innate immune signalling in human infectious disease. Lancet Infect Dis 2009, 9(11):688-698.
-
(2009)
Lancet Infect Dis
, vol.9
, Issue.11
, pp. 688-698
-
-
van de Vosse, E.1
van Dissel, J.T.2
Ottenhoff, T.H.3
-
13
-
-
79961074298
-
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
-
Hsu A.P., Sampaio E.P., Khan J., Calvo K.R., Lemieux J.E., Patel S.Y., et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011, 118(10):2653-2655.
-
(2011)
Blood
, vol.118
, Issue.10
, pp. 2653-2655
-
-
Hsu, A.P.1
Sampaio, E.P.2
Khan, J.3
Calvo, K.R.4
Lemieux, J.E.5
Patel, S.Y.6
-
14
-
-
1542542689
-
Autoantibodies to interferon-g in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity
-
Doffinger R., Helbert M.R., Barcenas-Morales G., Yang K., Dupuis S., Ceron-Gutierrez L., et al. Autoantibodies to interferon-g in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis 2004, 38(1):e10-e14.
-
(2004)
Clin Infect Dis
, vol.38
, Issue.1
-
-
Doffinger, R.1
Helbert, M.R.2
Barcenas-Morales, G.3
Yang, K.4
Dupuis, S.5
Ceron-Gutierrez, L.6
-
15
-
-
84869882029
-
Genetic variations in interleukin-12 related genes in immune-mediated diseases
-
van Wanrooij R.L., Zwiers A., Kraal G., Bouma G. Genetic variations in interleukin-12 related genes in immune-mediated diseases. J Autoimmun 2012, 39(4):359-368.
-
(2012)
J Autoimmun
, vol.39
, Issue.4
, pp. 359-368
-
-
van Wanrooij, R.L.1
Zwiers, A.2
Kraal, G.3
Bouma, G.4
-
16
-
-
0030064036
-
Regulation of bioactive IL-12 production in lipopolysaccharide-stimulated human monocytes is determined by the expression of the p35 subunit
-
Snijders A., Hilkens C.M., van der Pouw Kraan T.C., Engel M., Aarden L.A., Kapsenberg M.L. Regulation of bioactive IL-12 production in lipopolysaccharide-stimulated human monocytes is determined by the expression of the p35 subunit. J Immunol 1996, 156(3):1207-1212.
-
(1996)
J Immunol
, vol.156
, Issue.3
, pp. 1207-1212
-
-
Snijders, A.1
Hilkens, C.M.2
van der Pouw Kraan, T.C.3
Engel, M.4
Aarden, L.A.5
Kapsenberg, M.L.6
-
17
-
-
0025808629
-
Coexpression of two distinct genes is required to generate secreted bioactive cytotoxic lymphocyte maturation factor
-
Gubler U., Chua A.O., Schoenhaut D.S., Dwyer C.M., McComas W., Motyka R., et al. Coexpression of two distinct genes is required to generate secreted bioactive cytotoxic lymphocyte maturation factor. Proc Natl Acad Sci U S A 1991, 88(10):4143-4147.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, Issue.10
, pp. 4143-4147
-
-
Gubler, U.1
Chua, A.O.2
Schoenhaut, D.S.3
Dwyer, C.M.4
McComas, W.5
Motyka, R.6
-
18
-
-
0034541139
-
IL-12 receptor b2 (IL-12R b2)-deficient mice are defective in IL-12-mediated signaling despite the presence of high affinity IL-12 binding sites
-
Wu C., Wang X., Gadina M., O'Shea J.J., Presky D.H., Magram J. IL-12 receptor b2 (IL-12R b2)-deficient mice are defective in IL-12-mediated signaling despite the presence of high affinity IL-12 binding sites. J Immunol 2000, 165(11):6221-6228.
-
(2000)
J Immunol
, vol.165
, Issue.11
, pp. 6221-6228
-
-
Wu, C.1
Wang, X.2
Gadina, M.3
O'Shea, J.J.4
Presky, D.H.5
Magram, J.6
-
19
-
-
0036467445
-
Mice lacking bioactive IL-12 can generate protective, antigen-specific cellular responses to mycobacterial infection only if the IL-12 p40 subunit is present
-
Cooper A.M., Kipnis A., Turner J., Magram J., Ferrante J., Orme I.M. Mice lacking bioactive IL-12 can generate protective, antigen-specific cellular responses to mycobacterial infection only if the IL-12 p40 subunit is present. J Immunol 2002, 168:1322-1327.
-
(2002)
J Immunol
, vol.168
, pp. 1322-1327
-
-
Cooper, A.M.1
Kipnis, A.2
Turner, J.3
Magram, J.4
Ferrante, J.5
Orme, I.M.6
-
20
-
-
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. Nat Rev Immunol 2003, 3:133-146.
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 133-146
-
-
Trinchieri, G.1
-
21
-
-
33646152522
-
Human host genetic factors in mycobacterial and Salmonella infection: lessons from single gene disorders in IL-12/IL-23-dependent signaling that affect innate and adaptive immunity
-
van de Vosse E., Ottenhoff T.H. Human host genetic factors in mycobacterial and Salmonella infection: lessons from single gene disorders in IL-12/IL-23-dependent signaling that affect innate and adaptive immunity. Microbes Infect 2006, 8(4):1167-1173.
-
(2006)
Microbes Infect
, vol.8
, Issue.4
, pp. 1167-1173
-
-
van de Vosse, E.1
Ottenhoff, T.H.2
-
22
-
-
33745865224
-
T-cell control of IL-12p75 production
-
Abdi K., Singh N., Matzinger P. T-cell control of IL-12p75 production. Scand J Immunol 2006, 64(2):83-92.
-
(2006)
Scand J Immunol
, vol.64
, Issue.2
, pp. 83-92
-
-
Abdi, K.1
Singh, N.2
Matzinger, P.3
-
23
-
-
77954067489
-
Salmonella induced IL-23 and IL-1b allow for IL-12 production by monocytes and Mphi1 through induction of IFN-g in CD56 NK/NK-like T cells
-
van de Wetering D., de Paus R.A., van Dissel J.T., van de Vosse E. Salmonella induced IL-23 and IL-1b allow for IL-12 production by monocytes and Mphi1 through induction of IFN-g in CD56 NK/NK-like T cells. PLoS One 2009, 4(12):e8396.
-
(2009)
PLoS One
, vol.4
, Issue.12
-
-
van de Wetering, D.1
de Paus, R.A.2
van Dissel, J.T.3
van de Vosse, E.4
-
24
-
-
55149092303
-
Regulation of interleukin-12/interleukin-23 production and the T-helper 17 response in humans
-
Lyakh L., Trinchieri G., Provezza L., Carra G., Gerosa F. Regulation of interleukin-12/interleukin-23 production and the T-helper 17 response in humans. Immunol Rev 2008, 226:112-131.
-
(2008)
Immunol Rev
, vol.226
, pp. 112-131
-
-
Lyakh, L.1
Trinchieri, G.2
Provezza, L.3
Carra, G.4
Gerosa, F.5
-
26
-
-
34247555353
-
Differentiation and function of Th17 T cells
-
Stockinger B., Veldhoen M. Differentiation and function of Th17 T cells. Curr Opin Immunol 2007, 19(3):281-286.
-
(2007)
Curr Opin Immunol
, vol.19
, Issue.3
, pp. 281-286
-
-
Stockinger, B.1
Veldhoen, M.2
-
27
-
-
84889665353
-
-
2012. https://grenada.lumc.nl/LOVD2/mendelian_genes/status.php.
-
(2012)
-
-
-
28
-
-
0036727746
-
Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae
-
Ottenhoff T.H., Verreck F.A., Lichtenauer-Kaligis E.G., Hoeve M.A., Sanal O., van Dissel J.T. Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet 2002, 32(1):97-105.
-
(2002)
Nat Genet
, vol.32
, Issue.1
, pp. 97-105
-
-
Ottenhoff, T.H.1
Verreck, F.A.2
Lichtenauer-Kaligis, E.G.3
Hoeve, M.A.4
Sanal, O.5
van Dissel, J.T.6
-
29
-
-
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 2002, 20:581-620.
-
(2002)
Annu Rev Immunol
, vol.20
, pp. 581-620
-
-
Casanova, J.L.1
Abel, L.2
-
30
-
-
46949086109
-
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
-
de Beaucoudrey L., Puel A., Filipe-Santos O., Cobat A., Ghandil P., Chrabieh M., et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008, 205(7):1543-1550.
-
(2008)
J Exp Med
, vol.205
, Issue.7
, pp. 1543-1550
-
-
de Beaucoudrey, L.1
Puel, A.2
Filipe-Santos, O.3
Cobat, A.4
Ghandil, P.5
Chrabieh, M.6
-
31
-
-
78649351360
-
Revisiting human IL-12Rb1 deficiency: a survey of 141 patients from 30 countries
-
de Beaucoudrey L., Samarina A., Bustamante J., Cobat A., Boisson-Dupuis S., Feinberg J., et al. Revisiting human IL-12Rb1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010, 89(6):381-402.
-
(2010)
Medicine (Baltimore)
, vol.89
, Issue.6
, pp. 381-402
-
-
de Beaucoudrey, L.1
Samarina, A.2
Bustamante, J.3
Cobat, A.4
Boisson-Dupuis, S.5
Feinberg, J.6
-
32
-
-
8444221890
-
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans
-
MacLennan C., Fieschi C., Lammas D.A., Picard C., Dorman S.E., Sanal O., et al. Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 2004, 190(10):1755-1757.
-
(2004)
J Infect Dis
, vol.190
, Issue.10
, pp. 1755-1757
-
-
MacLennan, C.1
Fieschi, C.2
Lammas, D.A.3
Picard, C.4
Dorman, S.E.5
Sanal, O.6
-
33
-
-
71849109959
-
Protective immunity to systemic infection with attenuated Salmonella enterica serovar enteritidis in the absence of IL-12 is associated with IL-23-dependent IL-22, but not IL-17
-
Schulz S.M., Kohler G., Schutze N., Knauer J., Straubinger R.K., Chackerian A.A., et al. Protective immunity to systemic infection with attenuated Salmonella enterica serovar enteritidis in the absence of IL-12 is associated with IL-23-dependent IL-22, but not IL-17. J Immunol 2008, 181(11):7891-7901.
-
(2008)
J Immunol
, vol.181
, Issue.11
, pp. 7891-7901
-
-
Schulz, S.M.1
Kohler, G.2
Schutze, N.3
Knauer, J.4
Straubinger, R.K.5
Chackerian, A.A.6
-
34
-
-
80051713731
-
Bacille Calmette-Guerin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor b1 deficiency
-
Aytekin C., Dogu F., Tuygun N., Tanir G., Guloglu D., Boisson-Dupuis S., et al. Bacille Calmette-Guerin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor b1 deficiency. J Investig Allergol Clin Immunol 2011, 21(5):401-404.
-
(2011)
J Investig Allergol Clin Immunol
, vol.21
, Issue.5
, pp. 401-404
-
-
Aytekin, C.1
Dogu, F.2
Tuygun, N.3
Tanir, G.4
Guloglu, D.5
Boisson-Dupuis, S.6
-
35
-
-
79954588322
-
IL-12Rb1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey
-
Boisson-Dupuis S., El Baghdadi J., Parvaneh N., Bousfiha A., Bustamante J., Feinberg J., et al. IL-12Rb1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One 2011, 6(4):e18524.
-
(2011)
PLoS One
, vol.6
, Issue.4
-
-
Boisson-Dupuis, S.1
El Baghdadi, J.2
Parvaneh, N.3
Bousfiha, A.4
Bustamante, J.5
Feinberg, J.6
-
36
-
-
84861965202
-
Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor b1 deficiency
-
Potjewijd J., de Paus R.A., van Wengen A., Damoiseaux J., Verbon A., van de Vosse E. Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor b1 deficiency. Clin Immunol 2012, 144(2):83-86.
-
(2012)
Clin Immunol
, vol.144
, Issue.2
, pp. 83-86
-
-
Potjewijd, J.1
de Paus, R.A.2
van Wengen, A.3
Damoiseaux, J.4
Verbon, A.5
van de Vosse, E.6
-
37
-
-
77953230747
-
Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor b1 deficiency
-
van de Vosse E., Ottenhoff T.H., de Paus R.A., Verhard E.M., de Boer T., van Dissel J.T., et al. Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor b1 deficiency. Infection 2010, 38(2):128-130.
-
(2010)
Infection
, vol.38
, Issue.2
, pp. 128-130
-
-
van de Vosse, E.1
Ottenhoff, T.H.2
de Paus, R.A.3
Verhard, E.M.4
de Boer, T.5
van Dissel, J.T.6
-
38
-
-
79951822458
-
Interleukin-12 receptor b1 deficiency predisposing to disseminated coccidioidomycosis
-
Vinh D.C., Schwartz B., Hsu A.P., Miranda D.J., Valdez P.A., Fink D., et al. Interleukin-12 receptor b1 deficiency predisposing to disseminated coccidioidomycosis. Clin Infect Dis 2011, 52(4):e99-e102.
-
(2011)
Clin Infect Dis
, vol.52
, Issue.4
-
-
Vinh, D.C.1
Schwartz, B.2
Hsu, A.P.3
Miranda, D.J.4
Valdez, P.A.5
Fink, D.6
-
39
-
-
81255147196
-
Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium
-
Schejbel L., Rasmussen E.M., Kemp H.B., Lundstedt A.C., Nielsen K.R., Obel N., et al. Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium. Scand J Immunol 2011, 74(6):548-553.
-
(2011)
Scand J Immunol
, vol.74
, Issue.6
, pp. 548-553
-
-
Schejbel, L.1
Rasmussen, E.M.2
Kemp, H.B.3
Lundstedt, A.C.4
Nielsen, K.R.5
Obel, N.6
-
40
-
-
79952223953
-
Treatment of disseminated mycobacterial infection with high-dose IFN-g in a patient with IL-12Rb1 deficiency
-
Alangari A.A., Al-Zamil F., Al-Mazrou A., Al-Muhsen S., Boisson-Dupuis S., Awadallah S., et al. Treatment of disseminated mycobacterial infection with high-dose IFN-g in a patient with IL-12Rb1 deficiency. Clin Dev Immunol 2011, 2011:691956.
-
(2011)
Clin Dev Immunol
, vol.2011
, pp. 691956
-
-
Alangari, A.A.1
Al-Zamil, F.2
Al-Mazrou, A.3
Al-Muhsen, S.4
Boisson-Dupuis, S.5
Awadallah, S.6
-
41
-
-
80555135404
-
Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency
-
Tabarsi P., Marjani M., Mansouri N., Farnia P., Boisson-Dupuis S., Bustamante J., et al. Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. J Clin Immunol 2011, 31(4):537-539.
-
(2011)
J Clin Immunol
, vol.31
, Issue.4
, pp. 537-539
-
-
Tabarsi, P.1
Marjani, M.2
Mansouri, N.3
Farnia, P.4
Boisson-Dupuis, S.5
Bustamante, J.6
-
42
-
-
0037261363
-
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor b1 deficient patients and evidence for the existence of partial IL-12 receptor b1 deficiency
-
Lichtenauer-Kaligis E.G.R., de Boer T., Verreck F.A.W., van Voorden S., Hoeve M.A., van de Vosse E., et al. Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor b1 deficient patients and evidence for the existence of partial IL-12 receptor b1 deficiency. Eur J Immunol 2003, 33:59-69.
-
(2003)
Eur J Immunol
, vol.33
, pp. 59-69
-
-
Lichtenauer-Kaligis, E.G.R.1
de Boer, T.2
Verreck, F.A.W.3
van Voorden, S.4
Hoeve, M.A.5
van de Vosse, E.6
-
43
-
-
29644445157
-
Molecular complementation of IL-12Rb1 deficiency reveals functional differences between IL-12Rb1 alleles including partial IL-12Rb1 deficiency
-
van de Vosse, de Paus R.A., van Dissel J.T., Ottenhoff T.H. Molecular complementation of IL-12Rb1 deficiency reveals functional differences between IL-12Rb1 alleles including partial IL-12Rb1 deficiency. Hum Mol Genet 2005, 14(24):3847-3855.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.24
, pp. 3847-3855
-
-
van de Vosse, E.1
de Paus, R.A.2
van Dissel, J.T.3
Ottenhoff, T.H.4
-
44
-
-
0035879825
-
Interleukin-12 receptor b1 deficiency in a patient with abdominal tuberculosis
-
Altare F., Ensser A., Breiman A., Reichenbach J., Baghdadi J.E., Fischer A., et al. Interleukin-12 receptor b1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 2001, 184(2):231-236.
-
(2001)
J Infect Dis
, vol.184
, Issue.2
, pp. 231-236
-
-
Altare, F.1
Ensser, A.2
Breiman, A.3
Reichenbach, J.4
Baghdadi, J.E.5
Fischer, A.6
-
45
-
-
79960094057
-
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
-
van de Veerdonk F.L., Plantinga T.S., Hoischen A., Smeekens S.P., Joosten L.A., Gilissen C., et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011, 365(1):54-61.
-
(2011)
N Engl J Med
, vol.365
, Issue.1
, pp. 54-61
-
-
van de Veerdonk, F.L.1
Plantinga, T.S.2
Hoischen, A.3
Smeekens, S.P.4
Joosten, L.A.5
Gilissen, C.6
-
46
-
-
84865308028
-
Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
-
Boisson-Dupuis S., Kong X.F., Okada S., Cypowyj S., Puel A., Abel L., et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 2012, 24(4):364-378.
-
(2012)
Curr Opin Immunol
, vol.24
, Issue.4
, pp. 364-378
-
-
Boisson-Dupuis, S.1
Kong, X.F.2
Okada, S.3
Cypowyj, S.4
Puel, A.5
Abel, L.6
-
47
-
-
79961154447
-
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
-
Liu L., Okada S., Kong X.F., Kreins A.Y., Cypowyj S., Abhyankar A., et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011, 208(8):1635-1648.
-
(2011)
J Exp Med
, vol.208
, Issue.8
, pp. 1635-1648
-
-
Liu, L.1
Okada, S.2
Kong, X.F.3
Kreins, A.Y.4
Cypowyj, S.5
Abhyankar, A.6
-
48
-
-
33749515631
-
Two-sided roles of IL-27: induction of Th1 differentiation on naive CD4+ T cells versus suppression of proinflammatory cytokine production including IL-23-induced IL-17 on activated CD4+ T cells partially through STAT3-dependent mechanism
-
Yoshimura T., Takeda A., Hamano S., Miyazaki Y., Kinjyo I., Ishibashi T., et al. Two-sided roles of IL-27: induction of Th1 differentiation on naive CD4+ T cells versus suppression of proinflammatory cytokine production including IL-23-induced IL-17 on activated CD4+ T cells partially through STAT3-dependent mechanism. J Immunol 2006, 177(8):5377-5385.
-
(2006)
J Immunol
, vol.177
, Issue.8
, pp. 5377-5385
-
-
Yoshimura, T.1
Takeda, A.2
Hamano, S.3
Miyazaki, Y.4
Kinjyo, I.5
Ishibashi, T.6
-
49
-
-
84861410440
-
Interleukin-12: clinical usage and molecular markers of cancer susceptibility
-
Yuzhalin A.E., Kutikhin A.G. Interleukin-12: clinical usage and molecular markers of cancer susceptibility. Growth Factor 2012, 30(3):176-191.
-
(2012)
Growth Factor
, vol.30
, Issue.3
, pp. 176-191
-
-
Yuzhalin, A.E.1
Kutikhin, A.G.2
-
50
-
-
0842266786
-
Interferon-g: an overview of signals, mechanisms and functions
-
Schroder K., Hertzog P.J., Ravasi T., Hume D.A. Interferon-g: an overview of signals, mechanisms and functions. J Leukoc Biol 2004, 75(2):163-189.
-
(2004)
J Leukoc Biol
, vol.75
, Issue.2
, pp. 163-189
-
-
Schroder, K.1
Hertzog, P.J.2
Ravasi, T.3
Hume, D.A.4
-
51
-
-
33746710391
-
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-g-dependent signaling
-
Haverkamp M.H., van Dissel J.T., Holland S.M. Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-g-dependent signaling. Microbes Infect 2006, 8(4):1157-1166.
-
(2006)
Microbes Infect
, vol.8
, Issue.4
, pp. 1157-1166
-
-
Haverkamp, M.H.1
van Dissel, J.T.2
Holland, S.M.3
-
52
-
-
79957597037
-
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-g pathway in protective immunity
-
Manry J., Laval G., Patin E., Fornarino S., Tichit M., Bouchier C., et al. Evolutionary genetics evidence of an essential, nonredundant role of the IFN-g pathway in protective immunity. Hum Mutat 2011, 32(6):633-642.
-
(2011)
Hum Mutat
, vol.32
, Issue.6
, pp. 633-642
-
-
Manry, J.1
Laval, G.2
Patin, E.3
Fornarino, S.4
Tichit, M.5
Bouchier, C.6
-
53
-
-
4344648175
-
Clinical features of dominant and recessive interferon-g receptor 1 deficiencies
-
Dorman S.E., Picard C., Lammas D., Heyne K., van Dissel J.T., Baretto R., et al. Clinical features of dominant and recessive interferon-g receptor 1 deficiencies. Lancet 2004, 364(9451):2113-2121.
-
(2004)
Lancet
, vol.364
, Issue.9451
, pp. 2113-2121
-
-
Dorman, S.E.1
Picard, C.2
Lammas, D.3
Heyne, K.4
van Dissel, J.T.5
Baretto, R.6
-
54
-
-
84869005209
-
Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-g-receptor-2 deficiency
-
Kilic S.S., van Wengen A., de Paus R.A., Celebi S., Meziane B., Hafizoglu D., et al. Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-g-receptor-2 deficiency. J Infect 2012, 65(6):568-572.
-
(2012)
J Infect
, vol.65
, Issue.6
, pp. 568-572
-
-
Kilic, S.S.1
van Wengen, A.2
de Paus, R.A.3
Celebi, S.4
Meziane, B.5
Hafizoglu, D.6
-
55
-
-
0032948177
-
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
-
Jouanguy E., Lamhamedi-Cherradi S., Lammas D., Dorman S.E., Fondaneche M.C., Dupuis S., et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 1999, 21(4):370-378.
-
(1999)
Nat Genet
, vol.21
, Issue.4
, pp. 370-378
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Lammas, D.3
Dorman, S.E.4
Fondaneche, M.C.5
Dupuis, S.6
-
56
-
-
0034067449
-
In a novel form of IFN-g receptor 1 deficiency, cell surface receptors fail to bind IFN-g
-
Jouanguy E., Dupuis S., Pallier A., Döffinger R., Fondaneche M.C., Fieschi C., et al. In a novel form of IFN-g receptor 1 deficiency, cell surface receptors fail to bind IFN-g. J Clin Invest 2000, 105:1429-1436.
-
(2000)
J Clin Invest
, vol.105
, pp. 1429-1436
-
-
Jouanguy, E.1
Dupuis, S.2
Pallier, A.3
Döffinger, R.4
Fondaneche, M.C.5
Fieschi, C.6
-
57
-
-
77949902855
-
A novel form of cell type-specific partial IFN-gR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
-
Kong X.F., Vogt G., Chapgier A., Lamaze C., Bustamante J., Prando C., et al. A novel form of cell type-specific partial IFN-gR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. Hum Mol Genet 2010, 19(3):434-444.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.3
, pp. 434-444
-
-
Kong, X.F.1
Vogt, G.2
Chapgier, A.3
Lamaze, C.4
Bustamante, J.5
Prando, C.6
-
58
-
-
79953072406
-
Partial recessive IFN-gR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
-
Sologuren I., Boisson-Dupuis S., Pestano J., Vincent Q.B., Fernandez-Perez L., Chapgier A., et al. Partial recessive IFN-gR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet 2011, 20(8):1509-1523.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.8
, pp. 1509-1523
-
-
Sologuren, I.1
Boisson-Dupuis, S.2
Pestano, J.3
Vincent, Q.B.4
Fernandez-Perez, L.5
Chapgier, A.6
-
59
-
-
0032103249
-
Mutation in the signal-transducing chain of the interferon-g receptor and susceptibility to mycobacterial infection
-
Dorman S.E., Holland S.M. Mutation in the signal-transducing chain of the interferon-g receptor and susceptibility to mycobacterial infection. J Clin Invest 1998, 101(11):2364-2369.
-
(1998)
J Clin Invest
, vol.101
, Issue.11
, pp. 2364-2369
-
-
Dorman, S.E.1
Holland, S.M.2
-
60
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
Vogt G., Chapgier A., Yang K., Chuzhanova N., Feinberg J., Fieschi C., et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005, 37(7):692-700.
-
(2005)
Nat Genet
, vol.37
, Issue.7
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
Chuzhanova, N.4
Feinberg, J.5
Fieschi, C.6
-
61
-
-
49249138373
-
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
-
Vogt G., Bustamante J., Chapgier A., Feinberg J., Boisson D.S., Picard C., et al. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med 2008, 205(8):1729-1737.
-
(2008)
J Exp Med
, vol.205
, Issue.8
, pp. 1729-1737
-
-
Vogt, G.1
Bustamante, J.2
Chapgier, A.3
Feinberg, J.4
Boisson, D.S.5
Picard, C.6
-
62
-
-
0033967256
-
Partial interferon-g receptor signaling chain deficiency in a patient with Bacille Calmette-Guérin and Mycobacterium abscessus infection
-
Doffinger R., Jouanguy E., Dupuis S., Fondaneche M.C., Stephan J.L., Emile J.F., et al. Partial interferon-g receptor signaling chain deficiency in a patient with Bacille Calmette-Guérin and Mycobacterium abscessus infection. J Infect Dis 2000, 181:379-384.
-
(2000)
J Infect Dis
, vol.181
, pp. 379-384
-
-
Doffinger, R.1
Jouanguy, E.2
Dupuis, S.3
Fondaneche, M.C.4
Stephan, J.L.5
Emile, J.F.6
-
63
-
-
4644281630
-
A novel mutation in IFN-g receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
-
Rosenzweig S.D., Dorman S.E., Uzel G., Shaw S., Scurlock A., Brown M.R., et al. A novel mutation in IFN-g receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 2004, 173(6):4000-4008.
-
(2004)
J Immunol
, vol.173
, Issue.6
, pp. 4000-4008
-
-
Rosenzweig, S.D.1
Dorman, S.E.2
Uzel, G.3
Shaw, S.4
Scurlock, A.5
Brown, M.R.6
-
64
-
-
84873025890
-
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
-
Kong X.F., Vogt G., Itan Y., Macura-Biegun A., Szaflarska A., Kowalczyk D., et al. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet 2012, 22(4):769-781.
-
(2012)
Hum Mol Genet
, vol.22
, Issue.4
, pp. 769-781
-
-
Kong, X.F.1
Vogt, G.2
Itan, Y.3
Macura-Biegun, A.4
Szaflarska, A.5
Kowalczyk, D.6
-
65
-
-
9744229978
-
Hematopoietic stem cell transplantation for complete IFN-g receptor 1 deficiency: a multi-institutional survey
-
Roesler J., Horwitz M.E., Picard C., Bordigoni P., Davies G., Koscielniak E., et al. Hematopoietic stem cell transplantation for complete IFN-g receptor 1 deficiency: a multi-institutional survey. J Pediatr 2004, 145(6):806-812.
-
(2004)
J Pediatr
, vol.145
, Issue.6
, pp. 806-812
-
-
Roesler, J.1
Horwitz, M.E.2
Picard, C.3
Bordigoni, P.4
Davies, G.5
Koscielniak, E.6
-
66
-
-
0141816687
-
Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-g receptor-1 deficiency
-
Horwitz M.E., Uzel G., Linton G.F., Miller J.A., Brown M.R., Malech H.L., et al. Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-g receptor-1 deficiency. Blood 2003, 102(7):2692-2694.
-
(2003)
Blood
, vol.102
, Issue.7
, pp. 2692-2694
-
-
Horwitz, M.E.1
Uzel, G.2
Linton, G.F.3
Miller, J.A.4
Brown, M.R.5
Malech, H.L.6
-
67
-
-
38849146244
-
IFN-g mediates the rejection of haematopoietic stem cells in IFN-gR1-deficient hosts
-
Rottman M., Soudais C., Vogt G., Renia L., Emile J.F., Decaluwe H., et al. IFN-g mediates the rejection of haematopoietic stem cells in IFN-gR1-deficient hosts. PLoS Med 2008, 5(1):e26.
-
(2008)
PLoS Med
, vol.5
, Issue.1
-
-
Rottman, M.1
Soudais, C.2
Vogt, G.3
Renia, L.4
Emile, J.F.5
Decaluwe, H.6
-
68
-
-
0034801928
-
Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-g receptor
-
Arend S.M., Janssen R., Gosen J.J., Waanders H., de Boer T., Ottenhoff T.H., et al. Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-g receptor. Neth J Med 2001, 59(3):140-151.
-
(2001)
Neth J Med
, vol.59
, Issue.3
, pp. 140-151
-
-
Arend, S.M.1
Janssen, R.2
Gosen, J.J.3
Waanders, H.4
de Boer, T.5
Ottenhoff, T.H.6
-
69
-
-
0034781968
-
Interferon-g receptor deficiency mimicking Langerhans' cell histiocytosis
-
Edgar J.D., Smyth A.E., Pritchard J., Lammas D., Jouanguy E., Hague R., et al. Interferon-g receptor deficiency mimicking Langerhans' cell histiocytosis. J Pediatr 2001, 139(4):600-603.
-
(2001)
J Pediatr
, vol.139
, Issue.4
, pp. 600-603
-
-
Edgar, J.D.1
Smyth, A.E.2
Pritchard, J.3
Lammas, D.4
Jouanguy, E.5
Hague, R.6
-
70
-
-
33745256027
-
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-g receptor 1 deficiency
-
Chantrain C.F., Bruwier A., Brichard B., Largent V., Chapgier A., Feinberg J., et al. Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-g receptor 1 deficiency. Bone Marrow Transplant 2006, 38(1):75-76.
-
(2006)
Bone Marrow Transplant
, vol.38
, Issue.1
, pp. 75-76
-
-
Chantrain, C.F.1
Bruwier, A.2
Brichard, B.3
Largent, V.4
Chapgier, A.5
Feinberg, J.6
-
71
-
-
33646563395
-
Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgR1 deficiency
-
Remiszewski P., Roszkowska-Sliz B., Winek J., Chapgier A., Feinberg J., Langfort R., et al. Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgR1 deficiency. Respiration 2006, 73(3):375-378.
-
(2006)
Respiration
, vol.73
, Issue.3
, pp. 375-378
-
-
Remiszewski, P.1
Roszkowska-Sliz, B.2
Winek, J.3
Chapgier, A.4
Feinberg, J.5
Langfort, R.6
-
72
-
-
0036784626
-
Divergent role for TNF-a in IFN-g-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-g receptor 1 deficiency
-
Janssen R., van Wengen A., Verhard E., de Boer T., Zomerdijk T., Ottenhoff T.H., et al. Divergent role for TNF-a in IFN-g-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-g receptor 1 deficiency. J Immunol 2002, 169(7):3900-3907.
-
(2002)
J Immunol
, vol.169
, Issue.7
, pp. 3900-3907
-
-
Janssen, R.1
van Wengen, A.2
Verhard, E.3
de Boer, T.4
Zomerdijk, T.5
Ottenhoff, T.H.6
-
74
-
-
0035854542
-
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation
-
Dupuis S., Dargemont C., Fieschi C., Thomassin N., Rosenzweig S., Harris J., et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001, 293(5528):300-303.
-
(2001)
Science
, vol.293
, Issue.5528
, pp. 300-303
-
-
Dupuis, S.1
Dargemont, C.2
Fieschi, C.3
Thomassin, N.4
Rosenzweig, S.5
Harris, J.6
-
75
-
-
84865174263
-
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
-
Tsumura M., Okada S., Sakai H., Yasunaga S., Ohtsubo M., Murata T., et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease. Hum Mutat 2012, 33(9):1377-1387.
-
(2012)
Hum Mutat
, vol.33
, Issue.9
, pp. 1377-1387
-
-
Tsumura, M.1
Okada, S.2
Sakai, H.3
Yasunaga, S.4
Ohtsubo, M.5
Murata, T.6
-
76
-
-
84863984617
-
A novel STAT1 mutation associated with disseminated mycobacterial disease
-
Sampaio E.P., Bax H.I., Hsu A.P., Kristosturyan E., Pechacek J., Chandrasekaran P., et al. A novel STAT1 mutation associated with disseminated mycobacterial disease. J Clin Immunol 2012, 32(4):681-689.
-
(2012)
J Clin Immunol
, vol.32
, Issue.4
, pp. 681-689
-
-
Sampaio, E.P.1
Bax, H.I.2
Hsu, A.P.3
Kristosturyan, E.4
Pechacek, J.5
Chandrasekaran, P.6
-
77
-
-
67651007827
-
A partial form of recessive STAT1 deficiency in humans
-
Chapgier A., Kong X.F., Boisson-Dupuis S., Jouanguy E., Averbuch D., Feinberg J., et al. A partial form of recessive STAT1 deficiency in humans. J Clin Invest 2009, 119(6):1502-1514.
-
(2009)
J Clin Invest
, vol.119
, Issue.6
, pp. 1502-1514
-
-
Chapgier, A.1
Kong, X.F.2
Boisson-Dupuis, S.3
Jouanguy, E.4
Averbuch, D.5
Feinberg, J.6
-
78
-
-
34547123145
-
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
-
Chapgier A., Boisson-Dupuis S., Jouanguy E., Vogt G., Feinberg J., Prochnicka-Chalufour A., et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet 2006, 2(8):e131.
-
(2006)
PLoS Genet
, vol.2
, Issue.8
-
-
Chapgier, A.1
Boisson-Dupuis, S.2
Jouanguy, E.3
Vogt, G.4
Feinberg, J.5
Prochnicka-Chalufour, A.6
-
79
-
-
9644262469
-
Interferons, interferon-like cytokines, and their receptors
-
Pestka S., Krause C.D., Walter M.R. Interferons, interferon-like cytokines, and their receptors. Immunol Rev 2004, 202:8-32.
-
(2004)
Immunol Rev
, vol.202
, pp. 8-32
-
-
Pestka, S.1
Krause, C.D.2
Walter, M.R.3
-
80
-
-
33645787761
-
Human complete STAT1 deficiency is associated with defective type I and II IFN responses invitro but immunity to some low virulence viruses invivo
-
Chapgier A., Wynn R.F., Jouanguy E., Filipe-Santos O., Zhang S., Feinberg J., et al. Human complete STAT1 deficiency is associated with defective type I and II IFN responses invitro but immunity to some low virulence viruses invivo. J Immunol 2006, 176(8):5078-5083.
-
(2006)
J Immunol
, vol.176
, Issue.8
, pp. 5078-5083
-
-
Chapgier, A.1
Wynn, R.F.2
Jouanguy, E.3
Filipe-Santos, O.4
Zhang, S.5
Feinberg, J.6
-
81
-
-
79954943814
-
The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1
-
Averbuch D., Chapgier A., Boisson-Dupuis S., Casanova J.L., Engelhard D. The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1. Pediatr Infect Dis J 2011, 30(4):352-355.
-
(2011)
Pediatr Infect Dis J
, vol.30
, Issue.4
, pp. 352-355
-
-
Averbuch, D.1
Chapgier, A.2
Boisson-Dupuis, S.3
Casanova, J.L.4
Engelhard, D.5
-
82
-
-
0037371835
-
Impaired response to interferon-a/b and lethal viral disease in human STAT1 deficiency
-
Dupuis S., Jouanguy E., Al-Hajjar S., Fieschi C., Al-Mohsen I.Z., Al-Jumaah S., et al. Impaired response to interferon-a/b and lethal viral disease in human STAT1 deficiency. Nat Genet 2003, 33(3):388-391.
-
(2003)
Nat Genet
, vol.33
, Issue.3
, pp. 388-391
-
-
Dupuis, S.1
Jouanguy, E.2
Al-Hajjar, S.3
Fieschi, C.4
Al-Mohsen, I.Z.5
Al-Jumaah, S.6
-
83
-
-
84864126962
-
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain
-
Takezaki S., Yamada M., Kato M., Park M.J., Maruyama K., Yamazaki Y., et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol 2012, 189(3):1521-1526.
-
(2012)
J Immunol
, vol.189
, Issue.3
, pp. 1521-1526
-
-
Takezaki, S.1
Yamada, M.2
Kato, M.3
Park, M.J.4
Maruyama, K.5
Yamazaki, Y.6
-
84
-
-
84862888780
-
Herpes in STAT1 deficiency
-
Toth B., Mehes L., Tasko S., Szalai Z., Tulassay Z., Cypowyj S., et al. Herpes in STAT1 deficiency. Lancet 2012, 379(9835):2500.
-
(2012)
Lancet
, vol.379
, Issue.9835
, pp. 2500
-
-
Toth, B.1
Mehes, L.2
Tasko, S.3
Szalai, Z.4
Tulassay, Z.5
Cypowyj, S.6
-
85
-
-
57149141634
-
Hypomorphic nuclear factor-kB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
-
Hanson E.P., Monaco-Shawver L., Solt L.A., Madge L.A., Banerjee P.P., May M.J., et al. Hypomorphic nuclear factor-kB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008, 122(6):1169-1177.
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.6
, pp. 1169-1177
-
-
Hanson, E.P.1
Monaco-Shawver, L.2
Solt, L.A.3
Madge, L.A.4
Banerjee, P.P.5
May, M.J.6
-
86
-
-
0035286726
-
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
-
Jain A., Ma C.A., Liu S., Brown M., Cohen J., Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001, 2(3):223-228.
-
(2001)
Nat Immunol
, vol.2
, Issue.3
, pp. 223-228
-
-
Jain, A.1
Ma, C.A.2
Liu, S.3
Brown, M.4
Cohen, J.5
Strober, W.6
-
87
-
-
0036259559
-
Deficient natural killer cell cytotoxicity in patients with IKK-g/NEMO mutations
-
Orange J.S., Brodeur S.R., Jain A., Bonilla F.A., Schneider L.C., Kretschmer R., et al. Deficient natural killer cell cytotoxicity in patients with IKK-g/NEMO mutations. J Clin Invest 2002, 109(11):1501-1509.
-
(2002)
J Clin Invest
, vol.109
, Issue.11
, pp. 1501-1509
-
-
Orange, J.S.1
Brodeur, S.R.2
Jain, A.3
Bonilla, F.A.4
Schneider, L.C.5
Kretschmer, R.6
-
88
-
-
33745835468
-
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
-
Filipe-Santos O., Bustamante J., Haverkamp M.H., Vinolo E., Ku C.L., Puel A., et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 2006, 203(7):1745-1759.
-
(2006)
J Exp Med
, vol.203
, Issue.7
, pp. 1745-1759
-
-
Filipe-Santos, O.1
Bustamante, J.2
Haverkamp, M.H.3
Vinolo, E.4
Ku, C.L.5
Puel, A.6
-
89
-
-
0029927301
-
Defective monocyte costimulation for IFN-g production in familial disseminated Mycobacterium avium complex infection
-
Frucht D.M., Holland S.M. Defective monocyte costimulation for IFN-g production in familial disseminated Mycobacterium avium complex infection. J Immunol 1996, 157:411-416.
-
(1996)
J Immunol
, vol.157
, pp. 411-416
-
-
Frucht, D.M.1
Holland, S.M.2
-
90
-
-
0028281757
-
Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon-g. A preliminary report
-
Holland S.M., Eisenstein E.M., Kuhns D.B., Turner M.L., Fleisher T.A., Strober W., et al. Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon-g. A preliminary report. N Engl J Med 1994, 330(19):1348-1355.
-
(1994)
N Engl J Med
, vol.330
, Issue.19
, pp. 1348-1355
-
-
Holland, S.M.1
Eisenstein, E.M.2
Kuhns, D.B.3
Turner, M.L.4
Fleisher, T.A.5
Strober, W.6
-
91
-
-
79951647077
-
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
-
Bustamante J., Arias A.A., Vogt G., Picard C., Galicia L.B., Prando C., et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 2011, 12(3):213-221.
-
(2011)
Nat Immunol
, vol.12
, Issue.3
, pp. 213-221
-
-
Bustamante, J.1
Arias, A.A.2
Vogt, G.3
Picard, C.4
Galicia, L.B.5
Prando, C.6
-
92
-
-
75949110589
-
Chronic granulomatous disease
-
Holland S.M. Chronic granulomatous disease. Clin Rev Allergy Immunol 2010, 38(1):3-10.
-
(2010)
Clin Rev Allergy Immunol
, vol.38
, Issue.1
, pp. 3-10
-
-
Holland, S.M.1
-
93
-
-
34548317417
-
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
-
Minegishi Y., Saito M., Tsuchiya S., Tsuge I., Takada H., Hara T., et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007, 448(7157):1058-1062.
-
(2007)
Nature
, vol.448
, Issue.7157
, pp. 1058-1062
-
-
Minegishi, Y.1
Saito, M.2
Tsuchiya, S.3
Tsuge, I.4
Takada, H.5
Hara, T.6
-
94
-
-
35348960378
-
STAT3 mutations in the hyper-IgE syndrome
-
Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007, 357(16):1608-1619.
-
(2007)
N Engl J Med
, vol.357
, Issue.16
, pp. 1608-1619
-
-
Holland, S.M.1
DeLeo, F.R.2
Elloumi, H.Z.3
Hsu, A.P.4
Uzel, G.5
Brodsky, N.6
-
95
-
-
33744539146
-
IRF-8/interferon (IFN) consensus sequence-binding protein is involved in Toll-like receptor (TLR) signaling and contributes to the cross-talk between TLR and IFN-g signaling pathways
-
Zhao J., Kong H.J., Li H., Huang B., Yang M., Zhu C., et al. IRF-8/interferon (IFN) consensus sequence-binding protein is involved in Toll-like receptor (TLR) signaling and contributes to the cross-talk between TLR and IFN-g signaling pathways. J Biol Chem 2006, 281(15):10073-10080.
-
(2006)
J Biol Chem
, vol.281
, Issue.15
, pp. 10073-10080
-
-
Zhao, J.1
Kong, H.J.2
Li, H.3
Huang, B.4
Yang, M.5
Zhu, C.6
-
96
-
-
4344706162
-
Nontuberculous mycobacterial infection in children: a 2-year prospective surveillance study in the Netherlands
-
Haverkamp M.H., Arend S.M., Lindeboom J.A., Hartwig N.G., van Dissel J.T. Nontuberculous mycobacterial infection in children: a 2-year prospective surveillance study in the Netherlands. Clin Infect Dis 2004, 39(4):450-456.
-
(2004)
Clin Infect Dis
, vol.39
, Issue.4
, pp. 450-456
-
-
Haverkamp, M.H.1
Arend, S.M.2
Lindeboom, J.A.3
Hartwig, N.G.4
van Dissel, J.T.5
-
97
-
-
70249101037
-
Nontuberculous mycobacterial infection in children: a prospective national study
-
Blyth C.C., Best E.J., Jones C.A., Nourse C., Goldwater P.N., Daley A.J., et al. Nontuberculous mycobacterial infection in children: a prospective national study. Pediatr Infect Dis J 2009, 28(9):801-805.
-
(2009)
Pediatr Infect Dis J
, vol.28
, Issue.9
, pp. 801-805
-
-
Blyth, C.C.1
Best, E.J.2
Jones, C.A.3
Nourse, C.4
Goldwater, P.N.5
Daley, A.J.6
-
98
-
-
34250813166
-
Analysis of the interleukin-12/interferon-g pathway in children with non-tuberculous mycobacterial cervical lymphadenitis
-
Serour F., Mizrahi A., Somekh E., Feinberg J., Picard C., Casanova J.L., et al. Analysis of the interleukin-12/interferon-g pathway in children with non-tuberculous mycobacterial cervical lymphadenitis. Eur J Pediatr 2007, 166(8):835-841.
-
(2007)
Eur J Pediatr
, vol.166
, Issue.8
, pp. 835-841
-
-
Serour, F.1
Mizrahi, A.2
Somekh, E.3
Feinberg, J.4
Picard, C.5
Casanova, J.L.6
-
99
-
-
79952030559
-
Nontuberculous mycobacterial cervicofacial lymphadenitis in children from the multicenter, randomized, controlled trial in The Netherlands: relevance of polymorphisms in candidate host immunity genes
-
Haverkamp M.H., Lindeboom J.A., de Visser A.W., Kremer D., Kuijpers T.W., van de Vosse E., et al. Nontuberculous mycobacterial cervicofacial lymphadenitis in children from the multicenter, randomized, controlled trial in The Netherlands: relevance of polymorphisms in candidate host immunity genes. Int J Pediatr Otorhinolaryngol 2010, 74(7):752-754.
-
(2010)
Int J Pediatr Otorhinolaryngol
, vol.74
, Issue.7
, pp. 752-754
-
-
Haverkamp, M.H.1
Lindeboom, J.A.2
de Visser, A.W.3
Kremer, D.4
Kuijpers, T.W.5
van de Vosse, E.6
-
100
-
-
0033630312
-
Cytokine therapy of mycobacterial infections
-
Holland S.M. Cytokine therapy of mycobacterial infections. Adv Intern Med 2000, 45:431-452.
-
(2000)
Adv Intern Med
, vol.45
, pp. 431-452
-
-
Holland, S.M.1
-
101
-
-
3042734228
-
Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor b1-deficient patients
-
Bosticardo M., Witte I., Fieschi C., Novelli F., Casanova J.L., Candotti F. Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor b1-deficient patients. Mol Ther 2004, 9(6):895-901.
-
(2004)
Mol Ther
, vol.9
, Issue.6
, pp. 895-901
-
-
Bosticardo, M.1
Witte, I.2
Fieschi, C.3
Novelli, F.4
Casanova, J.L.5
Candotti, F.6
-
102
-
-
66549092636
-
Antisense-mediated exon skipping to correct IL-12Rb1 deficiency in T cells
-
van de Vosse E., Verhard E.M., de Paus R.A., Platenburg G.J., van Deutekom J.C., Aartsma-Rus A., et al. Antisense-mediated exon skipping to correct IL-12Rb1 deficiency in T cells. Blood 2009, 113(19):4548-4555.
-
(2009)
Blood
, vol.113
, Issue.19
, pp. 4548-4555
-
-
van de Vosse, E.1
Verhard, E.M.2
de Paus, R.A.3
Platenburg, G.J.4
van Deutekom, J.C.5
Aartsma-Rus, A.6
-
103
-
-
79957741005
-
Protein N-glycosylation, protein folding, and protein quality control
-
Roth J., Zuber C., Park S., Jang I., Lee Y., Kysela K.G., et al. Protein N-glycosylation, protein folding, and protein quality control. Mol Cells 2010, 30(6):497-506.
-
(2010)
Mol Cells
, vol.30
, Issue.6
, pp. 497-506
-
-
Roth, J.1
Zuber, C.2
Park, S.3
Jang, I.4
Lee, Y.5
Kysela, K.G.6
-
104
-
-
34547732069
-
Primary immunodeficiencies: a field in its infancy
-
Casanova J.L., Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007, 317(5838):617-619.
-
(2007)
Science
, vol.317
, Issue.5838
, pp. 617-619
-
-
Casanova, J.L.1
Abel, L.2
-
105
-
-
34250623592
-
Association of polymorphisms in IL-12/IFN-g pathway genes with susceptibility to pulmonary tuberculosis in Indonesia
-
Sahiratmadja E., Baak-Pablo R., de Visser A.W., Alisjahbana B., Adnan I., van Crevel R., et al. Association of polymorphisms in IL-12/IFN-g pathway genes with susceptibility to pulmonary tuberculosis in Indonesia. Tuberculosis (Edinb) 2007, 87(4):303-311.
-
(2007)
Tuberculosis (Edinb)
, vol.87
, Issue.4
, pp. 303-311
-
-
Sahiratmadja, E.1
Baak-Pablo, R.2
de Visser, A.W.3
Alisjahbana, B.4
Adnan, I.5
van Crevel, R.6
-
106
-
-
81055157031
-
Recent insights into the pathobiology of innate immune deficiencies
-
Rosenzweig S.D., Holland S.M. Recent insights into the pathobiology of innate immune deficiencies. Curr Allergy Asthma Rep 2011, 11(5):369-377.
-
(2011)
Curr Allergy Asthma Rep
, vol.11
, Issue.5
, pp. 369-377
-
-
Rosenzweig, S.D.1
Holland, S.M.2
-
107
-
-
33749600724
-
Inborn errors of IL-12/23- and IFN-g-mediated immunity: molecular, cellular, and clinical features
-
Filipe-Santos O., Bustamante J., de Beaucoudrey L., Feinberg J., Jouanguy E., Boisson-Dupuis S., et al. Inborn errors of IL-12/23- and IFN-g-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 2006, 18(6):347-361.
-
(2006)
Semin Immunol
, vol.18
, Issue.6
, pp. 347-361
-
-
Filipe-Santos, O.1
Bustamante, J.2
de Beaucoudrey, L.3
Feinberg, J.4
Jouanguy, E.5
Boisson-Dupuis, S.6
-
108
-
-
4644292965
-
The hyper IgM syndrome - an evolving story
-
Etzioni A., Ochs H.D. The hyper IgM syndrome - an evolving story. Pediatr Res 2004, 56(4):519-525.
-
(2004)
Pediatr Res
, vol.56
, Issue.4
, pp. 519-525
-
-
Etzioni, A.1
Ochs, H.D.2
-
109
-
-
0010520554
-
Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination)
-
Mimouni J. Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination). Alger Medicale 1951, 55(8):1138-1147.
-
(1951)
Alger Medicale
, vol.55
, Issue.8
, pp. 1138-1147
-
-
Mimouni, J.1
-
110
-
-
77950862324
-
Primary immunodeficiencies of protective immunity to primary infections
-
Bousfiha A., Picard C., Boisson-Dupuis S., Zhang S.Y., Bustamante J., Puel A., et al. Primary immunodeficiencies of protective immunity to primary infections. Clin Immunol 2010, 135(2):204-209.
-
(2010)
Clin Immunol
, vol.135
, Issue.2
, pp. 204-209
-
-
Bousfiha, A.1
Picard, C.2
Boisson-Dupuis, S.3
Zhang, S.Y.4
Bustamante, J.5
Puel, A.6
-
111
-
-
22944461763
-
Inborn errors of immunity to infection: the rule rather than the exception
-
Casanova J.L., Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 2005, 202(2):197-201.
-
(2005)
J Exp Med
, vol.202
, Issue.2
, pp. 197-201
-
-
Casanova, J.L.1
Abel, L.2
-
112
-
-
82555192897
-
Definition of primary immunodeficiency in 2011: a "trialogue" among friends
-
Conley M.E., Notarangelo L.D., Casanova J.L. Definition of primary immunodeficiency in 2011: a "trialogue" among friends. Ann N Y Acad Sci 2011, 1238:1-6.
-
(2011)
Ann N Y Acad Sci
, vol.1238
, pp. 1-6
-
-
Conley, M.E.1
Notarangelo, L.D.2
Casanova, J.L.3
-
113
-
-
84876442493
-
Primary immunodeficiency diseases worldwide: more common than generally thought
-
Bousfiha A.A., Jeddane L., Ailal F., Benhsaien I., Mahlaoui N., Casanova J.L., et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol 2012, 33(1):1-7.
-
(2012)
J Clin Immunol
, vol.33
, Issue.1
, pp. 1-7
-
-
Bousfiha, A.A.1
Jeddane, L.2
Ailal, F.3
Benhsaien, I.4
Mahlaoui, N.5
Casanova, J.L.6
|