-
1
-
-
13444266370
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh A., Scott A.F., Amberger J.S., Bocchini C.A., and McKusick V.A. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucl Acids Res 33 (2005) D514-D517
-
(2005)
Nucl Acids Res
, vol.33
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.S.3
Bocchini, C.A.4
McKusick, V.A.5
-
2
-
-
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 Med 55 (1951) 1138-1147
-
(1951)
Alger Med
, vol.55
, pp. 1138-1147
-
-
Mimouni, J.1
-
3
-
-
0028869497
-
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?
-
Levin M., Newport M.J., D'Souza S., Kalabalikis P., Brown I.N., Lenicker H.M., et al. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?. Lancet 345 (1995) 79-83
-
(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
-
4
-
-
0029116172
-
Immunological conditions of children with BCG disseminated infection
-
Casanova J.L., Jouanguy E., Lamhamedi S., Blanche S., and Fischer A. Immunological conditions of children with BCG disseminated infection. Lancet 346 (1995) 581
-
(1995)
Lancet
, vol.346
, pp. 581
-
-
Casanova, J.L.1
Jouanguy, E.2
Lamhamedi, S.3
Blanche, S.4
Fischer, A.5
-
5
-
-
0029838301
-
Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study
-
Casanova J.L., Blanche S., Emile J.F., Jouanguy E., Lamhamedi S., Altare F., et al. Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study. Pediatrics 98 (1996) 774-778
-
(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
-
6
-
-
0033826812
-
Interferon-gamma and interleukin-12 pathway defects and human disease
-
Dorman S.E., and Holland S.M. Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 11 (2000) 321-333
-
(2000)
Cytokine Growth Factor Rev
, vol.11
, pp. 321-333
-
-
Dorman, S.E.1
Holland, S.M.2
-
7
-
-
0036219062
-
Genetic dissection of immunity to mycobacteria: the human model
-
Casanova J.L., and Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20 (2002) 581-620
-
(2002)
Annu Rev Immunol
, vol.20
, pp. 581-620
-
-
Casanova, J.L.1
Abel, L.2
-
8
-
-
0031468410
-
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis
-
Jouanguy E., Lamhamedi-Cherradi S., Altare F., Fondaneche M.C., Tuerlinckx D., Blanche S., et al. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. J Clin Invest 100 (1997) 2658-2664
-
(1997)
J Clin Invest
, vol.100
, pp. 2658-2664
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Altare, F.3
Fondaneche, M.C.4
Tuerlinckx, D.5
Blanche, S.6
-
9
-
-
0035879825
-
Interleukin-12 receptor beta1 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 beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 184 (2001) 231-236
-
(2001)
J Infect Dis
, vol.184
, pp. 231-236
-
-
Altare, F.1
Ensser, A.2
Breiman, A.3
Reichenbach, J.4
Baghdadi, J.E.5
Fischer, A.6
-
10
-
-
0038195718
-
Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency
-
Caragol I., Raspall M., Fieschi C., Feinberg J., Larrosa M.N., Hernandez M., et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 37 (2003) 302-306
-
(2003)
Clin Infect Dis
, vol.37
, pp. 302-306
-
-
Caragol, I.1
Raspall, M.2
Fieschi, C.3
Feinberg, J.4
Larrosa, M.N.5
Hernandez, M.6
-
11
-
-
22944481430
-
Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis
-
Özbek N., Fieschi C., Yilmaz B.T., De Beaucoudrey L., Bikmaz Y.E., and Casanova J.L. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 40 (2005) 55-58
-
(2005)
Clin Infect Dis
, vol.40
, pp. 55-58
-
-
Özbek, N.1
Fieschi, C.2
Yilmaz, B.T.3
De Beaucoudrey, L.4
Bikmaz, Y.E.5
Casanova, J.L.6
-
12
-
-
29144484290
-
Tuberculosis in children and adults: two distinct genetic diseases
-
Alcais A., Fieschi C., Abel L., and Casanova J.L. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202 (2005) 1617-1621
-
(2005)
J Exp Med
, vol.202
, pp. 1617-1621
-
-
Alcais, A.1
Fieschi, C.2
Abel, L.3
Casanova, J.L.4
-
13
-
-
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 190 (2004) 1755-1757
-
(2004)
J Infect Dis
, vol.190
, pp. 1755-1757
-
-
MacLennan, C.1
Fieschi, C.2
Lammas, D.A.3
Picard, C.4
Dorman, S.E.5
Sanal, O.6
-
14
-
-
0032819175
-
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) 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-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options. Exp Hematol 27 (1999) 1368-1374
-
(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
-
15
-
-
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 70 (2002) 336-348
-
(2002)
Am J Hum Genet
, vol.70
, pp. 336-348
-
-
Picard, C.1
Fieschi, C.2
Altare, F.3
Al-Jumaah, S.4
Al-Hajjar, S.5
Feinberg, J.6
-
16
-
-
0033497350
-
Viral infections in interferon-γ receptor deficiency
-
Dorman S.E., Uzel G., Roesler J., Bradley J.S., Bastian J., Billman G., et al. Viral infections in interferon-γ receptor deficiency. J Pediatr 135 (1999) 640-643
-
(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
-
17
-
-
11144356328
-
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency
-
Camcioglu Y., Picard C., Lacoste V., Dupuis S., Akcakaya N., Cokura H., et al. HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. J Pediatr 144 (2004) 519-523
-
(2004)
J Pediatr
, vol.144
, pp. 519-523
-
-
Camcioglu, Y.1
Picard, C.2
Lacoste, V.3
Dupuis, S.4
Akcakaya, N.5
Cokura, H.6
-
18
-
-
33645081359
-
Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency
-
Zerbe C.S., and Holland S.M. Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency. Clin Infect Dis 41 (2005) e38-e41
-
(2005)
Clin Infect Dis
, vol.41
-
-
Zerbe, C.S.1
Holland, S.M.2
-
19
-
-
29644433389
-
Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor
-
Moraes-Vasconcelos D., Grumach A.S., Yamaguti A., Andrade M.E., Fieschi C., Beaucoudrey L., et al. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis 41 (2005) e31-e37
-
(2005)
Clin Infect Dis
, vol.41
-
-
Moraes-Vasconcelos, D.1
Grumach, A.S.2
Yamaguti, A.3
Andrade, M.E.4
Fieschi, C.5
Beaucoudrey, L.6
-
20
-
-
0030467174
-
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
-
Newport M.J., Huxley C.M., Huston S., Hawrylowicz C.M., Oostra B.A., Williamson R., et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 335 (1996) 1941-1949
-
(1996)
N Engl J Med
, vol.335
, pp. 1941-1949
-
-
Newport, M.J.1
Huxley, C.M.2
Huston, S.3
Hawrylowicz, C.M.4
Oostra, B.A.5
Williamson, R.6
-
21
-
-
0030455878
-
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection
-
Jouanguy E., Altare F., Lamhamedi S., Revy P., Emile J.F., Newport M., et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med 335 (1996) 1956-1961
-
(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
-
22
-
-
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 21 (1999) 370-378
-
(1999)
Nat Genet
, vol.21
, pp. 370-378
-
-
Jouanguy, E.1
Lamhamedi-Cherradi, S.2
Lammas, D.3
Dorman, S.E.4
Fondaneche, M.C.5
Dupuis, S.6
-
23
-
-
0034067449
-
In a novel form of complete IFNγR1 deficiency, cell-surface receptors fail to bind IFNγ
-
Jouanguy E., Dupuis S., Pallier A., Döffinger R., Fondanèche M.C., Lamhamedi-Cherradi S., et al. In a novel form of complete IFNγR1 deficiency, cell-surface receptors fail to bind IFNγ. J Clin Invest 105 (2000) 1429-1436
-
(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
Lamhamedi-Cherradi, S.6
-
24
-
-
0032103249
-
Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
-
Dorman S.E., and Holland S.M. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101 (1998) 2364-2369
-
(1998)
J Clin Invest
, vol.101
, pp. 2364-2369
-
-
Dorman, S.E.1
Holland, S.M.2
-
25
-
-
4644281630
-
A novel mutation in IFN-gamma 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-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 173 (2004) 4000-4008
-
(2004)
J Immunol
, vol.173
, pp. 4000-4008
-
-
Rosenzweig, S.D.1
Dorman, S.E.2
Uzel, G.3
Shaw, S.4
Scurlock, A.5
Brown, M.R.6
-
26
-
-
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 37 (2005) 692-700
-
(2005)
Nat Genet
, vol.37
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
Chuzhanova, N.4
Feinberg, J.5
Fieschi, C.6
-
27
-
-
0033967256
-
Partial interferon gamma receptor signalling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection
-
Döffinger R., Jouanguy E., Dupuis S., Fondanèche M.C., Stéphan J.L., Emile J.F., et al. Partial interferon gamma receptor signalling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection. J Infect Dis 181 (2000) 379-384
-
(2000)
J Infect Dis
, vol.181
, pp. 379-384
-
-
Döffinger, R.1
Jouanguy, E.2
Dupuis, S.3
Fondanèche, M.C.4
Stéphan, J.L.5
Emile, J.F.6
-
28
-
-
0032535370
-
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
-
Altare F., Lammas D., Revy P., Jouanguy E., Doffinger R., Lamhamedi S., et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. J Clin Invest 102 (1998) 2035-2040
-
(1998)
J Clin Invest
, vol.102
, pp. 2035-2040
-
-
Altare, F.1
Lammas, D.2
Revy, P.3
Jouanguy, E.4
Doffinger, R.5
Lamhamedi, S.6
-
29
-
-
18244428735
-
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
-
Altare F., Durandy A., Lammas D., Emile J.F., Lamhamedi S., Le Deist F., et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280 (1998) 1432-1435
-
(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
-
30
-
-
0032577295
-
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
-
de Jong R., Altare F., Haagen I.A., Elferink D.G., Boer T., van Breda Vriesman P.J., et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280 (1998) 1435-1438
-
(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
-
31
-
-
4644310307
-
A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors
-
Fieschi C., Bosticardo M., de Beaucoudrey L., Boisson-Dupuis S., Feinberg J., Santos O.F., et al. A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104 (2004) 2095-2101
-
(2004)
Blood
, vol.104
, pp. 2095-2101
-
-
Fieschi, C.1
Bosticardo, M.2
de Beaucoudrey, L.3
Boisson-Dupuis, S.4
Feinberg, J.5
Santos, O.F.6
-
32
-
-
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 293 (2001) 300-303
-
(2001)
Science
, vol.293
, pp. 300-303
-
-
Dupuis, S.1
Dargemont, C.2
Fieschi, C.3
Thomassin, N.4
Rosenzweig, S.5
Harris, J.6
-
33
-
-
33749596289
-
-
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 Genetic 2006;18:2(8).
-
-
-
-
34
-
-
33745835468
-
X-linked susceptibility to mycobacteria is caused by mutations in the NEMO leucine zipper domain that impair 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 the NEMO leucine zipper domain that impair CD40-dependent IL-12 production. J Exp Med 203 (2006) 1745-1759
-
(2006)
J Exp Med
, vol.203
, pp. 1745-1759
-
-
Filipe-Santos, O.1
Bustamante, J.2
Haverkamp, M.H.3
Vinolo, E.4
Ku, C.-L.5
Puel, A.6
-
35
-
-
0037261363
-
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency
-
Lichtenauer-Kaligis E.G., de Boer T., Verreck F.A., 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 beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol 33 (2003) 59-69
-
(2003)
Eur J Immunol
, vol.33
, pp. 59-69
-
-
Lichtenauer-Kaligis, E.G.1
de Boer, T.2
Verreck, F.A.3
van Voorden, S.4
Hoeve, M.A.5
van de Vosse, E.6
-
36
-
-
0037371835
-
Impaired response to interferon-alpha/beta 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-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33 (2003) 388-391
-
(2003)
Nat Genet
, vol.33
, 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
-
37
-
-
33645787761
-
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
-
Chapgier A., Wynn R.F., Jouanguy E., Filipe-Santos O., Zhang S., Feinberg J., et al. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 176 (2006) 5078-5083
-
(2006)
J Immunol
, vol.176
, pp. 5078-5083
-
-
Chapgier, A.1
Wynn, R.F.2
Jouanguy, E.3
Filipe-Santos, O.4
Zhang, S.5
Feinberg, J.6
-
38
-
-
4344610517
-
The role of IL-12, IL-23 and IFN-gamma in immunity to viruses
-
Novelli F., and Casanova J.L. The role of IL-12, IL-23 and IFN-gamma in immunity to viruses. Cytokine Growth Factor Rev 15 (2004) 367-377
-
(2004)
Cytokine Growth Factor Rev
, vol.15
, pp. 367-377
-
-
Novelli, F.1
Casanova, J.L.2
-
39
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Doffinger R., Smahi A., Bessia C., Geissmann F., Feinberg J., Durandy A., et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27 (2001) 277-285
-
(2001)
Nat Genet
, vol.27
, pp. 277-285
-
-
Doffinger, R.1
Smahi, A.2
Bessia, C.3
Geissmann, F.4
Feinberg, J.5
Durandy, A.6
-
40
-
-
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., and Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2 (2001) 223-228
-
(2001)
Nat Immunol
, vol.2
, pp. 223-228
-
-
Jain, A.1
Ma, C.A.2
Liu, S.3
Brown, M.4
Cohen, J.5
Strober, W.6
-
41
-
-
0033658369
-
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
-
Zonana J., Elder M.E., Schneider L.C., Orlow S.J., Moss C., Golabi M., et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67 (2000) 1555-1562
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1555-1562
-
-
Zonana, J.1
Elder, M.E.2
Schneider, L.C.3
Orlow, S.J.4
Moss, C.5
Golabi, M.6
-
42
-
-
4344648175
-
Clinical features of dominant and recessive interferon gamma 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 gamma receptor 1 deficiencies. Lancet 364 (2004) 2113-2121
-
(2004)
Lancet
, vol.364
, pp. 2113-2121
-
-
Dorman, S.E.1
Picard, C.2
Lammas, D.3
Heyne, K.4
van Dissel, J.T.5
Baretto, R.6
-
43
-
-
0033057576
-
IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men
-
Jouanguy E., Doffinger R., Dupuis S., Pallier A., Altare F., and Casanova J.L. IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men. Curr Opin Immunol 11 (1999) 346-351
-
(1999)
Curr Opin Immunol
, vol.11
, pp. 346-351
-
-
Jouanguy, E.1
Doffinger, R.2
Dupuis, S.3
Pallier, A.4
Altare, F.5
Casanova, J.L.6
-
44
-
-
0038759100
-
The role of interleukin-12 in human infectious diseases: only a faint signature
-
Fieschi C., and Casanova J.L. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 33 (2003) 1461-1464
-
(2003)
Eur J Immunol
, vol.33
, pp. 1461-1464
-
-
Fieschi, C.1
Casanova, J.L.2
-
45
-
-
0034500805
-
Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion
-
Dupuis S., Doffinger R., Picard C., Fieschi C., Altare F., Jouanguy E., et al. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev 178 (2000) 129-137
-
(2000)
Immunol Rev
, vol.178
, pp. 129-137
-
-
Dupuis, S.1
Doffinger, R.2
Picard, C.3
Fieschi, C.4
Altare, F.5
Jouanguy, E.6
-
46
-
-
0347089095
-
The human model: a genetic dissection of immunity to infection in natural conditions
-
Casanova J.L., and Abel L. The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 4 (2004) 55-66
-
(2004)
Nat Rev Immunol
, vol.4
, pp. 55-66
-
-
Casanova, J.L.1
Abel, L.2
-
47
-
-
0033503910
-
Interferon γ receptor deficiency: an expanding phenotype?
-
Casanova J.L., and Ochs H.D. Interferon γ receptor deficiency: an expanding phenotype?. J Pediatr 135 (1999) 543-545
-
(1999)
J Pediatr
, vol.135
, pp. 543-545
-
-
Casanova, J.L.1
Ochs, H.D.2
-
48
-
-
0033694329
-
Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection
-
Holland S.M. Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection. Microbes Infect 2 (2000) 1579-1590
-
(2000)
Microbes Infect
, vol.2
, pp. 1579-1590
-
-
Holland, S.M.1
-
49
-
-
0035750449
-
Mycobacterial diseases in primary immunodeficiencies
-
Reichenbach J., Rosenzweig S., Doffinger R., Dupuis S., Holland S.M., and Casanova J.L. Mycobacterial diseases in primary immunodeficiencies. Curr Opin Allergy Clin Immunol 1 (2001) 503-511
-
(2001)
Curr Opin Allergy Clin Immunol
, vol.1
, pp. 503-511
-
-
Reichenbach, J.1
Rosenzweig, S.2
Doffinger, R.3
Dupuis, S.4
Holland, S.M.5
Casanova, J.L.6
-
50
-
-
0033054079
-
Inheritable defects in IL-12- and IFNg-mediated immunity and the TH1/TH2 paradigm in man
-
Döffinger R., Jouanguy E., Altare F., Wood P., Shirakawa T., Novelli F., et al. Inheritable defects in IL-12- and IFNg-mediated immunity and the TH1/TH2 paradigm in man. Allergy 54 (1999) 409-412
-
(1999)
Allergy
, vol.54
, pp. 409-412
-
-
Döffinger, R.1
Jouanguy, E.2
Altare, F.3
Wood, P.4
Shirakawa, T.5
Novelli, F.6
-
51
-
-
0034979957
-
Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood
-
Remus N., Reichenbach J., Picard C., Rietschel C., Wood P., Lammas D., et al. Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood. Pediatr Res 50 (2001) 8-13
-
(2001)
Pediatr Res
, vol.50
, pp. 8-13
-
-
Remus, N.1
Reichenbach, J.2
Picard, C.3
Rietschel, C.4
Wood, P.5
Lammas, D.6
-
52
-
-
13144281722
-
Defects in the interferon-gamma and interleukin-12 pathways
-
Rosenzweig S.D., and Holland S.M. Defects in the interferon-gamma and interleukin-12 pathways. Immunol Rev 203 (2005) 38-47
-
(2005)
Immunol Rev
, vol.203
, pp. 38-47
-
-
Rosenzweig, S.D.1
Holland, S.M.2
-
53
-
-
0032213010
-
Novel immunodeficiencies reveal the essential role of type 1 cytokines in immunity to intracellular bacteria
-
Ottenhoff T., Kumararatne D., and Casanova J.L. Novel immunodeficiencies reveal the essential role of type 1 cytokines in immunity to intracellular bacteria. Immunol Today 19 (1998) 491-494
-
(1998)
Immunol Today
, vol.19
, pp. 491-494
-
-
Ottenhoff, T.1
Kumararatne, D.2
Casanova, J.L.3
-
54
-
-
9644265521
-
Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae
-
van de Vosse E., Hoeve M.A., and Ottenhoff T.H. Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae. Lancet Infect Dis 4 (2004) 739-749
-
(2004)
Lancet Infect Dis
, vol.4
, pp. 739-749
-
-
van de Vosse, E.1
Hoeve, M.A.2
Ottenhoff, T.H.3
-
55
-
-
33646062006
-
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest
-
Notarangelo L., Casanova J.L., Conley M.E., Chapel H., Fischer A., Puck J., et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest. J Allergy Clin Immunol 117 (2006) 883-896
-
(2006)
J Allergy Clin Immunol
, vol.117
, pp. 883-896
-
-
Notarangelo, L.1
Casanova, J.L.2
Conley, M.E.3
Chapel, H.4
Fischer, A.5
Puck, J.6
-
56
-
-
0032146727
-
Mendelian susceptibility to mycobacterial infection in man
-
Altare F., Jouanguy E., Lamhamedi S., Doffinger R., Fischer A., and Casanova J.L. Mendelian susceptibility to mycobacterial infection in man. Curr Opin Immunol 10 (1998) 413-417
-
(1998)
Curr Opin Immunol
, vol.10
, pp. 413-417
-
-
Altare, F.1
Jouanguy, E.2
Lamhamedi, S.3
Doffinger, R.4
Fischer, A.5
Casanova, J.L.6
-
57
-
-
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., and van Dissel J.T. Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet 32 (2002) 97-105
-
(2002)
Nat Genet
, vol.32
, 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
-
58
-
-
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-gamma-dependent signaling
-
Haverkamp M.H., van Dissel J.T., and 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-gamma-dependent signaling. Microbes Infect 8 (2006) 1157-1166
-
(2006)
Microbes Infect
, vol.8
, pp. 1157-1166
-
-
Haverkamp, M.H.1
van Dissel, J.T.2
Holland, S.M.3
-
59
-
-
27744587338
-
Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children
-
Wood P.M., Fieschi C., Picard C., Ottenhoff T.H., Casanova J.L., and Kumararatne D.S. Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children. Eur J Pediatr 164 (2005) 741-747
-
(2005)
Eur J Pediatr
, vol.164
, pp. 741-747
-
-
Wood, P.M.1
Fieschi, C.2
Picard, C.3
Ottenhoff, T.H.4
Casanova, J.L.5
Kumararatne, D.S.6
-
60
-
-
0027411525
-
The molecular cell biology of interferon-gamma and its receptor
-
Farrar M.A., and Schreiber R.D. The molecular cell biology of interferon-gamma and its receptor. Annu Rev Immunol 11 (1993) 571-611
-
(1993)
Annu Rev Immunol
, vol.11
, pp. 571-611
-
-
Farrar, M.A.1
Schreiber, R.D.2
-
61
-
-
0031657551
-
How cells respond to interferons
-
Stark G.R., Kerr I.M., Williams B.R., Silverman R.H., and Schreiber R.D. How cells respond to interferons. Annu Rev Biochem 67 (1998) 227-264
-
(1998)
Annu Rev Biochem
, vol.67
, pp. 227-264
-
-
Stark, G.R.1
Kerr, I.M.2
Williams, B.R.3
Silverman, R.H.4
Schreiber, R.D.5
-
62
-
-
0030889207
-
The interferon gamma receptor: a paradigm for cytokine receptor signaling
-
Bach E., Aguet M., and Schreiber R.D. The interferon gamma receptor: a paradigm for cytokine receptor signaling. Annu Rev Immunol 15 (1997) 563-591
-
(1997)
Annu Rev Immunol
, vol.15
, pp. 563-591
-
-
Bach, E.1
Aguet, M.2
Schreiber, R.D.3
-
64
-
-
0030934873
-
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency
-
Pierre-Audigier C., Jouanguy E., Lamhamedi S., Altare F., Rauzier J., Vincent V., et al. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin Infect Dis 24 (1997) 982-984
-
(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
-
65
-
-
0031970784
-
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child
-
Altare F., Jouanguy E., Lamhamedi-Cherradi S., Fondaneche M.C., Fizame C., Ribierre F., et al. A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child. Am J Hum Genet 62 (1998) 723-726
-
(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
-
66
-
-
17344365404
-
Abnormal regulation of interferon gamma, interleukin 12, and tumor necrosis factor alpha in interferon gamma receptor 1 deficiency
-
Holland S.A., Dorman S.E., Kwon A., Pitha-Rowe I.F., Frucht D.M., Gerstberger S.M., et al. Abnormal regulation of interferon gamma, interleukin 12, and tumor necrosis factor alpha in interferon gamma receptor 1 deficiency. J Infect Dis 178 (1998) 1095-1104
-
(1998)
J Infect Dis
, vol.178
, pp. 1095-1104
-
-
Holland, S.A.1
Dorman, S.E.2
Kwon, A.3
Pitha-Rowe, I.F.4
Frucht, D.M.5
Gerstberger, S.M.6
-
67
-
-
0032819175
-
Recurrent mycobacterial and listeria infections in a child with interferon γ receptor deficiency: mutational analysis and evaluation of therapeutic options
-
Roesler J., Kofink B., Wendisch J., Heyden S., Paul D., Lehmann R., 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 (1999) 1368-1374
-
(1999)
Exp Haematol
, vol.27
, pp. 1368-1374
-
-
Roesler, J.1
Kofink, B.2
Wendisch, J.3
Heyden, S.4
Paul, D.5
Lehmann, R.6
-
68
-
-
0033841836
-
Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene
-
Cunningham J.A., Kellner J.D., Bridge P.J., Trevenen C.L., McLeod D.R., and Davies H.D. Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene. Int J Tuberc Lung Dis 4 (2000) 791-794
-
(2000)
Int J Tuberc Lung Dis
, vol.4
, pp. 791-794
-
-
Cunningham, J.A.1
Kellner, J.D.2
Bridge, P.J.3
Trevenen, C.L.4
McLeod, D.R.5
Davies, H.D.6
-
69
-
-
0035162061
-
A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency
-
Allende L.M., Lopez-Goyanes A., Paz-Artal E., Corell A., Garcia-Perez M.A., Varela P., et al. A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol 8 (2001) 133-137
-
(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
-
70
-
-
0036148873
-
A novel autosomal recessive mutation defines a second mutational hotspot in the interferon gamma receptor 1 (IFNGR1) chain
-
Rosenzweig S., Dorman S.E., Roesler J., Zelasko M., and Holland S.M. A novel autosomal recessive mutation defines a second mutational hotspot in the interferon gamma receptor 1 (IFNGR1) chain. Clin Immunol 102 (2002) 25-27
-
(2002)
Clin Immunol
, vol.102
, pp. 25-27
-
-
Rosenzweig, S.1
Dorman, S.E.2
Roesler, J.3
Zelasko, M.4
Holland, S.M.5
-
71
-
-
0037395530
-
Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency
-
Koscielniak E., de Boer T., Dupuis S., Naumann L., Casanova J.L., and Ottenhoff T.H. Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. Pediatr Infect Dis J 22 (2003) 378-380
-
(2003)
Pediatr Infect Dis J
, vol.22
, pp. 378-380
-
-
Koscielniak, E.1
de Boer, T.2
Dupuis, S.3
Naumann, L.4
Casanova, J.L.5
Ottenhoff, T.H.6
-
72
-
-
33744503945
-
Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency
-
Tsolia M.N., Chapgier A., Taprantzi P., Servitzoglou M., Tassios I., Spyridis N., et al. Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency. Eur J Pediatr 167 (2006) 458-461
-
(2006)
Eur J Pediatr
, vol.167
, pp. 458-461
-
-
Tsolia, M.N.1
Chapgier, A.2
Taprantzi, P.3
Servitzoglou, M.4
Tassios, I.5
Spyridis, N.6
-
73
-
-
33749624859
-
-
Marazzi MG, Chapgier A, Defilippi AC, Pistoia V, Plebani A, Dell'Acqua A, et al. Disseminated Mycobacterium scrofulaceum infection in a child with interferon receptor 1 deficiency. in preparation.
-
-
-
-
74
-
-
9244245196
-
Bacillus Calmette Guérin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes
-
Feinberg J., Fieschi C., Doffinger R., Feinberg M., Leclerc T., Boisson-Dupuis S., et al. Bacillus Calmette Guérin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol 34 (2004) 3276-3284
-
(2004)
Eur J Immunol
, vol.34
, pp. 3276-3284
-
-
Feinberg, J.1
Fieschi, C.2
Doffinger, R.3
Feinberg, M.4
Leclerc, T.5
Boisson-Dupuis, S.6
-
75
-
-
0031038855
-
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection
-
Emile J.F., Patey N., Altare F., Lamhamedi S., Jouanguy E., Boman F., et al., Quillard J. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J Pathol 181 (1997) 25-30
-
(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
-
76
-
-
9744229978
-
Hematopoietic stem cell transplantation for complete IFN-gamma 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-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr 145 (2004) 806-812
-
(2004)
J Pediatr
, vol.145
, pp. 806-812
-
-
Roesler, J.1
Horwitz, M.E.2
Picard, C.3
Bordigoni, P.4
Davies, G.5
Koscielniak, E.6
-
77
-
-
0036893367
-
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation
-
Reuter U., Roesler J., Thiede C., and Friedrich W. Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. Blood 100 (2002) 4234-4235
-
(2002)
Blood
, vol.100
, pp. 4234-4235
-
-
Reuter, U.1
Roesler, J.2
Thiede, C.3
Friedrich, W.4
-
78
-
-
0141816687
-
Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma 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-gamma receptor-1 deficiency. Blood 102 (2003) 2692-2694
-
(2003)
Blood
, vol.102
, 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
-
79
-
-
33745256027
-
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma 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-gamma receptor 1 deficiency. Bone Marrow Transplant 38 (2006) 75-76
-
(2006)
Bone Marrow Transplant
, vol.38
, pp. 75-76
-
-
Chantrain, C.F.1
Bruwier, A.2
Brichard, B.3
Largent, V.4
Chapgier, A.5
Feinberg, J.6
-
80
-
-
0035318933
-
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency
-
Fieschi C., Dupuis S., Picard C., Smith C.I., Holland S.M., and Casanova J.L. High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. Pediatrics 107 (2001) E48
-
(2001)
Pediatrics
, vol.107
-
-
Fieschi, C.1
Dupuis, S.2
Picard, C.3
Smith, C.I.4
Holland, S.M.5
Casanova, J.L.6
-
81
-
-
33646563395
-
Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 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 IFNgammaR1 deficiency. Respiration 73 (2006) 375-378
-
(2006)
Respiration
, vol.73
, pp. 375-378
-
-
Remiszewski, P.1
Roszkowska-Sliz, B.2
Winek, J.3
Chapgier, A.4
Feinberg, J.5
Langfort, R.6
-
82
-
-
0034801928
-
Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma 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-gamma receptor. Neth J Med 59 (2001) 140-151
-
(2001)
Neth J Med
, vol.59
, 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
-
83
-
-
17544386328
-
Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation
-
Villella A., Picard C., Jouanguy E., Dupuis S., Popko S., Abughali N., et al. Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation. Pediatrics 107 (2001) E47
-
(2001)
Pediatrics
, vol.107
-
-
Villella, A.1
Picard, C.2
Jouanguy, E.3
Dupuis, S.4
Popko, S.5
Abughali, N.6
-
84
-
-
0036498619
-
Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type
-
Sasaki Y., Nomura A., Kusuhara K., Takada H., Ahmed S., Obinata K., et al. Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type. J Infect Dis 185 (2002) 706-709
-
(2002)
J Infect Dis
, vol.185
, pp. 706-709
-
-
Sasaki, Y.1
Nomura, A.2
Kusuhara, K.3
Takada, H.4
Ahmed, S.5
Obinata, K.6
-
85
-
-
4544334445
-
Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation
-
Han J.Y., Rosenzweig S.D., Church J.A., Holland S.M., and Ross L.A. Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation. Clin Infect Dis 39 (2004) 868-870
-
(2004)
Clin Infect Dis
, vol.39
, pp. 868-870
-
-
Han, J.Y.1
Rosenzweig, S.D.2
Church, J.A.3
Holland, S.M.4
Ross, L.A.5
-
86
-
-
29244443417
-
Differential response to interferon-gamma therapy in a family with dominant negative partial interferon-gamma receptor1 deficiency
-
Smyth A.E., Jackson P., Lammas D., Asghar M.S., Crockard A.D., Casanova J.L., et al. Differential response to interferon-gamma therapy in a family with dominant negative partial interferon-gamma receptor1 deficiency. Eur J Pediatr 165 (2006) 71-72
-
(2006)
Eur J Pediatr
, vol.165
, pp. 71-72
-
-
Smyth, A.E.1
Jackson, P.2
Lammas, D.3
Asghar, M.S.4
Crockard, A.D.5
Casanova, J.L.6
-
87
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
Lopez-Correa C., Dorschner M., Brems H., Lazaro C., Clementi M., Upadhyaya M., et al. Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 10 (2001) 1387-1392
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1387-1392
-
-
Lopez-Correa, C.1
Dorschner, M.2
Brems, H.3
Lazaro, C.4
Clementi, M.5
Upadhyaya, M.6
-
88
-
-
0034962374
-
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
-
Lebo R.V., Ikuta T., Milunsky J.M., and Milunsky A. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clin Genet 59 (2001) 406-417
-
(2001)
Clin Genet
, vol.59
, pp. 406-417
-
-
Lebo, R.V.1
Ikuta, T.2
Milunsky, J.M.3
Milunsky, A.4
-
89
-
-
20544466466
-
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency
-
Schneider K.U., Sabherwal N., Jantz K., Roth R., Muncke N., Blum W.F., et al. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet 77 (2005) 89-96
-
(2005)
Am J Hum Genet
, vol.77
, pp. 89-96
-
-
Schneider, K.U.1
Sabherwal, N.2
Jantz, K.3
Roth, R.4
Muncke, N.5
Blum, W.F.6
-
90
-
-
33344470596
-
A second recombination hotspot associated with SHOX deletions
-
Zinn A.R., Ramos P., and Ross J.L. A second recombination hotspot associated with SHOX deletions. Am J Hum Genet 78 (2006) 523-525
-
(2006)
Am J Hum Genet
, vol.78
, pp. 523-525
-
-
Zinn, A.R.1
Ramos, P.2
Ross, J.L.3
-
91
-
-
0141720769
-
Class II cytokine receptors and their ligands: key antiviral and inflammatory modulators
-
Renauld J.C. Class II cytokine receptors and their ligands: key antiviral and inflammatory modulators. Nat Rev Immunol 3 (2003) 667-676
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 667-676
-
-
Renauld, J.C.1
-
93
-
-
21844444831
-
New IL-12-family members: IL-23 and IL-27, cytokines with divergent functions
-
Hunter C.A. New IL-12-family members: IL-23 and IL-27, cytokines with divergent functions. Nat Rev Immunol 5 (2005) 521-531
-
(2005)
Nat Rev Immunol
, vol.5
, pp. 521-531
-
-
Hunter, C.A.1
-
94
-
-
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 3 (2003) 133-146
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 133-146
-
-
Trinchieri, G.1
-
95
-
-
0037094077
-
Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille Calmette-Guérin infection
-
Elloumi-Zghal H., Barbouche M.R., Chemli J., Bejaoui M., Harbi A., Snoussi N., et al. Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille Calmette-Guérin infection. J Infect Dis 185 (2002) 1468-1475
-
(2002)
J Infect Dis
, vol.185
, pp. 1468-1475
-
-
Elloumi-Zghal, H.1
Barbouche, M.R.2
Chemli, J.3
Bejaoui, M.4
Harbi, A.5
Snoussi, N.6
-
96
-
-
27744489144
-
Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection
-
Mansouri D., Adimi P., Mirsaeidi M., Mansouri N., Khalilzadeh S., Masjedi M.R., et al. Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection. Eur J Pediatr 164 (2005) 753-757
-
(2005)
Eur J Pediatr
, vol.164
, pp. 753-757
-
-
Mansouri, D.1
Adimi, P.2
Mirsaeidi, M.3
Mansouri, N.4
Khalilzadeh, S.5
Masjedi, M.R.6
-
97
-
-
25144515561
-
Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae
-
Happel K.I., Dubin P.J., Zheng M., Ghilardi N., Lockhart C., Quinton L.J., et al. Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae. J Exp Med 202 (2005) 761-769
-
(2005)
J Exp Med
, vol.202
, pp. 761-769
-
-
Happel, K.I.1
Dubin, P.J.2
Zheng, M.3
Ghilardi, N.4
Lockhart, C.5
Quinton, L.J.6
-
98
-
-
9644257195
-
Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4
-
Watford W.T., Hissong B.D., Bream J.H., Kanno Y., Muul L., and O'Shea J.J. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev 202 (2004) 139-156
-
(2004)
Immunol Rev
, vol.202
, pp. 139-156
-
-
Watford, W.T.1
Hissong, B.D.2
Bream, J.H.3
Kanno, Y.4
Muul, L.5
O'Shea, J.J.6
-
99
-
-
0035016730
-
Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency
-
Aksu G., Tirpan C., Cavusoglu C., Soydan S., Altare F., Casanova J.L., et al. Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency. Pediatr Infect Dis J 20 (2001) 551-553
-
(2001)
Pediatr Infect Dis J
, vol.20
, pp. 551-553
-
-
Aksu, G.1
Tirpan, C.2
Cavusoglu, C.3
Soydan, S.4
Altare, F.5
Casanova, J.L.6
-
100
-
-
0037450808
-
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications
-
Fieschi C., Dupuis S., Catherinot E., Feinberg J., Bustamante J., Breiman A., et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 197 (2003) 527-535
-
(2003)
J Exp Med
, vol.197
, pp. 527-535
-
-
Fieschi, C.1
Dupuis, S.2
Catherinot, E.3
Feinberg, J.4
Bustamante, J.5
Breiman, A.6
-
101
-
-
0035353202
-
Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection
-
Sakai T., Matsuoka M., Aoki M., Nosaka K., and Mitsuya H. Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection. Blood 97 (2001) 2688-2694
-
(2001)
Blood
, vol.97
, pp. 2688-2694
-
-
Sakai, T.1
Matsuoka, M.2
Aoki, M.3
Nosaka, K.4
Mitsuya, H.5
-
102
-
-
0038157327
-
Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection
-
Staretz-Haham O., Melamed R., Lifshitz M., Porat N., Fieschi C., Casanova J.L., et al. Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection. Clin Infect Dis 37 (2003) 137-140
-
(2003)
Clin Infect Dis
, vol.37
, pp. 137-140
-
-
Staretz-Haham, O.1
Melamed, R.2
Lifshitz, M.3
Porat, N.4
Fieschi, C.5
Casanova, J.L.6
-
103
-
-
0037218610
-
Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency
-
Cleary A.M., Tu W., Enright A., Giffon T., Dewaal-Malefyt R., Gutierrez K., et al. Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency. J Immunol 170 (2003) 597-603
-
(2003)
J Immunol
, vol.170
, pp. 597-603
-
-
Cleary, A.M.1
Tu, W.2
Enright, A.3
Giffon, T.4
Dewaal-Malefyt, R.5
Gutierrez, K.6
-
104
-
-
0346752089
-
IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor beta1 deficiency
-
Hoeve M.A., de Boer T., Langenberg D.M., Sanal O., Verreck F.A., and Ottenhoff T.H. IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor beta1 deficiency. Eur J Immunol 33 (2003) 3393-3397
-
(2003)
Eur J Immunol
, vol.33
, pp. 3393-3397
-
-
Hoeve, M.A.1
de Boer, T.2
Langenberg, D.M.3
Sanal, O.4
Verreck, F.A.5
Ottenhoff, T.H.6
-
105
-
-
33748116006
-
Recurrent Salmonella bacteremia in interleukin-12 receptor {beta}1 deficiency
-
Ozen M., Ceyhan M., Sanal O., Bayraktar M., and Mesci L. Recurrent Salmonella bacteremia in interleukin-12 receptor {beta}1 deficiency. J Trop Pediatr 52 (2006) 296-298
-
(2006)
J Trop Pediatr
, vol.52
, pp. 296-298
-
-
Ozen, M.1
Ceyhan, M.2
Sanal, O.3
Bayraktar, M.4
Mesci, L.5
-
106
-
-
33646475872
-
Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features
-
Tanir G., Dogu F., Tuygun N., Ikinciogullari A., Aytekin C., Aydemir C., et al. Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features. Eur J Pediatr 165 (2006) 415-417
-
(2006)
Eur J Pediatr
, vol.165
, pp. 415-417
-
-
Tanir, G.1
Dogu, F.2
Tuygun, N.3
Ikinciogullari, A.4
Aytekin, C.5
Aydemir, C.6
-
107
-
-
30944443852
-
Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections
-
Sanal O., Turul T., De Boer T., Van de Vosse E., Yalcin I., Tezcan I., et al. Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections. J Clin Immunol 26 (2006) 1-6
-
(2006)
J Clin Immunol
, vol.26
, pp. 1-6
-
-
Sanal, O.1
Turul, T.2
De Boer, T.3
Van de Vosse, E.4
Yalcin, I.5
Tezcan, I.6
-
108
-
-
33645964585
-
Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency
-
Kutukculer N., Genel F., Aksu G., Karapinar B., Ozturk C., Cavusoglu C., et al. Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency. J Pediatr 148 (2006) 407-409
-
(2006)
J Pediatr
, vol.148
, pp. 407-409
-
-
Kutukculer, N.1
Genel, F.2
Aksu, G.3
Karapinar, B.4
Ozturk, C.5
Cavusoglu, C.6
-
109
-
-
17644369666
-
Variable outcome of experimental interferon-gamma therapy of disseminated bacillus Calmette-Guérin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children
-
Ulrichs T., Fieschi C., Nevicka E., Hahn H., Brezina M., Kaufmann S.H., et al. Variable outcome of experimental interferon-gamma therapy of disseminated bacillus Calmette-Guérin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children. Eur J Pediatr 164 (2005) 166-172
-
(2005)
Eur J Pediatr
, vol.164
, pp. 166-172
-
-
Ulrichs, T.1
Fieschi, C.2
Nevicka, E.3
Hahn, H.4
Brezina, M.5
Kaufmann, S.H.6
-
110
-
-
29744456401
-
IL-12-independent Th1 polarization in human mononuclear cells infected with varicella-zoster virus
-
Yu H.R., Chen R.F., Hong K.C., Bong C.N., Lee W.I., Kuo H.C., et al. IL-12-independent Th1 polarization in human mononuclear cells infected with varicella-zoster virus. Eur J Immunol 35 (2005) 3664-3672
-
(2005)
Eur J Immunol
, vol.35
, pp. 3664-3672
-
-
Yu, H.R.1
Chen, R.F.2
Hong, K.C.3
Bong, C.N.4
Lee, W.I.5
Kuo, H.C.6
-
111
-
-
0029957972
-
Role of interferon-g in immunity to herpes simplex virus
-
Yu Z., Manickan E., and Rouse B.T. Role of interferon-g in immunity to herpes simplex virus. J Leucoc Biol 60 (1996) 528-532
-
(1996)
J Leucoc Biol
, vol.60
, pp. 528-532
-
-
Yu, Z.1
Manickan, E.2
Rouse, B.T.3
-
112
-
-
22944461763
-
Inborn errors of immunity to infection: the rule rather than the exception
-
Casanova J.L., and Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med 202 (2005) 197-201
-
(2005)
J Exp Med
, vol.202
, pp. 197-201
-
-
Casanova, J.L.1
Abel, L.2
-
113
-
-
0036781052
-
NF-kappaB regulation in the immune system
-
Li Q., and Verma I.M. NF-kappaB regulation in the immune system. Nat Rev Immunol 2 (2002) 725-734
-
(2002)
Nat Rev Immunol
, vol.2
, pp. 725-734
-
-
Li, Q.1
Verma, I.M.2
-
114
-
-
0037124036
-
NEMO trimerizes through its coiled-coil C-terminal domain
-
Agou F., Ye F., Goffinont S., Courtois G., Yamaoka S., Israel A., et al. NEMO trimerizes through its coiled-coil C-terminal domain. J Biol Chem 277 (2002) 17464-17475
-
(2002)
J Biol Chem
, vol.277
, pp. 17464-17475
-
-
Agou, F.1
Ye, F.2
Goffinont, S.3
Courtois, G.4
Yamaoka, S.5
Israel, A.6
-
115
-
-
3142546430
-
The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains
-
Agou F., Traincard F., Vinolo E., Courtois G., Yamaoka S., Israel A., et al. The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains. J Biol Chem 279 (2004) 27861-27869
-
(2004)
J Biol Chem
, vol.279
, pp. 27861-27869
-
-
Agou, F.1
Traincard, F.2
Vinolo, E.3
Courtois, G.4
Yamaoka, S.5
Israel, A.6
-
116
-
-
0037145860
-
Stimulation of IKK-gamma oligomerization by the human T-cell leukemia virus oncoprotein Tax
-
Huang G.J., Zhang Z.Q., and Jin D.Y. Stimulation of IKK-gamma oligomerization by the human T-cell leukemia virus oncoprotein Tax. FEBS Lett 531 (2002) 494-498
-
(2002)
FEBS Lett
, vol.531
, pp. 494-498
-
-
Huang, G.J.1
Zhang, Z.Q.2
Jin, D.Y.3
-
117
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
-
Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405 (2000) 466-472
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
Yamaoka, S.4
Heuertz, S.5
Munnich, A.6
-
118
-
-
25144493747
-
NEMO mutations in two unrelated boys with severe infections and conical teeth
-
Ku C.L., Dupuis-Girod S., Dittrich A.M., Bustamante J., Santos O.F., Schulze I., et al. NEMO mutations in two unrelated boys with severe infections and conical teeth. Pediatrics 115 (2005) 615-619
-
(2005)
Pediatrics
, vol.115
, pp. 615-619
-
-
Ku, C.L.1
Dupuis-Girod, S.2
Dittrich, A.M.3
Bustamante, J.4
Santos, O.F.5
Schulze, I.6
-
119
-
-
33646824119
-
Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation
-
Schmid J.M., Junge S.A., Hossle J.P., Schneider E.M., Roosnek E., Seger R.A., et al. Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation. Pediatrics 117 (2006) e1049-e1056
-
(2006)
Pediatrics
, vol.117
-
-
Schmid, J.M.1
Junge, S.A.2
Hossle, J.P.3
Schneider, E.M.4
Roosnek, E.5
Seger, R.A.6
-
120
-
-
0036599324
-
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
-
Dupuis-Girod S., Corradini N., Hadj-Rabia S., Fournet J.C., Faivre L., Le Deist F., et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109 (2002) e97
-
(2002)
Pediatrics
, vol.109
-
-
Dupuis-Girod, S.1
Corradini, N.2
Hadj-Rabia, S.3
Fournet, J.C.4
Faivre, L.5
Le Deist, F.6
-
121
-
-
4444279550
-
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
-
Orange J.S., Levy O., Brodeur S.R., Krzewski K., Roy R.M., Niemela J.E., et al. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 114 (2004) 650-656
-
(2004)
J Allergy Clin Immunol
, vol.114
, pp. 650-656
-
-
Orange, J.S.1
Levy, O.2
Brodeur, S.R.3
Krzewski, K.4
Roy, R.M.5
Niemela, J.E.6
-
122
-
-
9644281000
-
A NEMO-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
-
Niehues T., Reichenbach J., Neubert J., Gudowius S., Puel A., Horneff G., et al. A NEMO-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol 114 (2004) 1456-1462
-
(2004)
J Allergy Clin Immunol
, vol.114
, pp. 1456-1462
-
-
Niehues, T.1
Reichenbach, J.2
Neubert, J.3
Gudowius, S.4
Puel, A.5
Horneff, G.6
-
123
-
-
33645473267
-
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
-
Puel A., Reichenbach J., Bustamante J., Ku C.L., Feinberg J., Doffinger R., et al. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet 78 (2006) 691-701
-
(2006)
Am J Hum Genet
, vol.78
, pp. 691-701
-
-
Puel, A.1
Reichenbach, J.2
Bustamante, J.3
Ku, C.L.4
Feinberg, J.5
Doffinger, R.6
-
124
-
-
0036771830
-
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
-
Smahi A., Courtois G., Rabia S.H., Doffinger R., Bodemer C., Munnich A., et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11 (2002) 2371-2375
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2371-2375
-
-
Smahi, A.1
Courtois, G.2
Rabia, S.H.3
Doffinger, R.4
Bodemer, C.5
Munnich, A.6
-
125
-
-
0030033284
-
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
-
Abinun M., Spickett G., Appleton A.L., Flood T., and Cant A.J. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur J Pediatr 155 (1996) 146-147
-
(1996)
Eur J Pediatr
, vol.155
, pp. 146-147
-
-
Abinun, M.1
Spickett, G.2
Appleton, A.L.3
Flood, T.4
Cant, A.J.5
-
126
-
-
0035281865
-
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
-
Mansour S., Woffendin H., Mitton S., Jeffery I., Jakins T., Kenwrick S., et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 99 (2001) 172-177
-
(2001)
Am J Med Genet
, vol.99
, pp. 172-177
-
-
Mansour, S.1
Woffendin, H.2
Mitton, S.3
Jeffery, I.4
Jakins, T.5
Kenwrick, S.6
-
127
-
-
0035089759
-
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
-
Aradhya S., Courtois G., Rajkovic A., Lewis R., Levy M., Israel A., et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet 68 (2001) 765-771
-
(2001)
Am J Hum Genet
, vol.68
, pp. 765-771
-
-
Aradhya, S.1
Courtois, G.2
Rajkovic, A.3
Lewis, R.4
Levy, M.5
Israel, A.6
-
128
-
-
0036259559
-
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/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-gamma/NEMO mutations. J Clin Invest 109 (2002) 1501-1509
-
(2002)
J Clin Invest
, vol.109
, 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
-
129
-
-
2942627117
-
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
-
Nishikomori R., Akutagawa H., Maruyama K., Nakata-Hizume M., Ohmori K., Mizuno K., et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 103 (2004) 4565-4572
-
(2004)
Blood
, vol.103
, pp. 4565-4572
-
-
Nishikomori, R.1
Akutagawa, H.2
Maruyama, K.3
Nakata-Hizume, M.4
Ohmori, K.5
Mizuno, K.6
-
130
-
-
33846461179
-
-
Ku CL, Picard C, Erdos M, Jeurissen A, Bustamante J, Puel A, et al. IRAK-4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. J Med Genet 2006; in press.
-
-
-
-
131
-
-
85047693229
-
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
-
Jain A., Ma C.A., Lopez-Granados E., Means G., Brady W., Orange J.S., et al. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J Clin Invest 114 (2004) 1593-1602
-
(2004)
J Clin Invest
, vol.114
, pp. 1593-1602
-
-
Jain, A.1
Ma, C.A.2
Lopez-Granados, E.3
Means, G.4
Brady, W.5
Orange, J.S.6
-
132
-
-
0034891223
-
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)
-
Kosaki K., Shimasaki N., Fukushima H., Hara M., Ogata T., and Matsuo N. Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). Am J Hum Genet 69 (2001) 664-666
-
(2001)
Am J Hum Genet
, vol.69
, pp. 664-666
-
-
Kosaki, K.1
Shimasaki, N.2
Fukushima, H.3
Hara, M.4
Ogata, T.5
Matsuo, N.6
-
133
-
-
0037385135
-
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
-
Carrol E.D., Gennery A.R., Flood T.J., Spickett G.P., and Abinun M. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 88 (2003) 340-341
-
(2003)
Arch Dis Child
, vol.88
, pp. 340-341
-
-
Carrol, E.D.1
Gennery, A.R.2
Flood, T.J.3
Spickett, G.P.4
Abinun, M.5
-
134
-
-
1942500166
-
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation
-
Orange J.S., Jain A., Ballas Z.K., Schneider L.C., Geha R.S., and Bonilla F.A. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 113 (2004) 725-733
-
(2004)
J Allergy Clin Immunol
, vol.113
, pp. 725-733
-
-
Orange, J.S.1
Jain, A.2
Ballas, Z.K.3
Schneider, L.C.4
Geha, R.S.5
Bonilla, F.A.6
-
135
-
-
30144437157
-
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
-
Orstavik K.H., Kristiansen M., Knudsen G.P., Storhaug K., Vege A., Eiklid K., et al. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Am J Med Genet A 140 (2006) 31-39
-
(2006)
Am J Med Genet A
, vol.140
, pp. 31-39
-
-
Orstavik, K.H.1
Kristiansen, M.2
Knudsen, G.P.3
Storhaug, K.4
Vege, A.5
Eiklid, K.6
-
136
-
-
0025999022
-
Rosacea-like lesions due to familial Mycobacterium avium-intracellulare infection
-
Nedorost S.T., Elewski B., Tomford J.W., and Camisa C. Rosacea-like lesions due to familial Mycobacterium avium-intracellulare infection. Int J Dermatol 30 (1991) 491-497
-
(1991)
Int J Dermatol
, vol.30
, pp. 491-497
-
-
Nedorost, S.T.1
Elewski, B.2
Tomford, J.W.3
Camisa, C.4
-
137
-
-
0029927301
-
Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation
-
Frucht D.M., and Holland S.M. Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation. J Immunol 157 (1996) 411-416
-
(1996)
J Immunol
, vol.157
, pp. 411-416
-
-
Frucht, D.M.1
Holland, S.M.2
-
138
-
-
0032927842
-
IL-12-independent costimulation pathways for interferon-γ production in familial disseminated Mycobacterium avium complex infection
-
Frucht D.M., Sandberg D.I., Brown M.R., Gerstberger S.M., and Holland S.M. IL-12-independent costimulation pathways for interferon-γ production in familial disseminated Mycobacterium avium complex infection. Clin Immunol 91 (1999) 234-241
-
(1999)
Clin Immunol
, vol.91
, pp. 234-241
-
-
Frucht, D.M.1
Sandberg, D.I.2
Brown, M.R.3
Gerstberger, S.M.4
Holland, S.M.5
-
139
-
-
0028281757
-
Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. 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 gamma. A preliminary report. N Engl J Med 330 (1994) 1348-1355
-
(1994)
N Engl J Med
, vol.330
, 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
-
140
-
-
0037471003
-
Pyogenic bacterial infections in humans with IRAK-4 deficiency
-
Picard C., Puel A., Bonnet M., Ku C.L., Bustamante J., Yang K., et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299 (2003) 2076-2079
-
(2003)
Science
, vol.299
, pp. 2076-2079
-
-
Picard, C.1
Puel, A.2
Bonnet, M.3
Ku, C.L.4
Bustamante, J.5
Yang, K.6
-
141
-
-
27744534928
-
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda is IRAK-4 dependent and redundant for protective immunity to viruses
-
Yang K., Puel A., Zhang S., Eidenschenk C., Ku C.L., Casrouge A., et al. Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 23 (2005) 465-478
-
(2005)
Immunity
, vol.23
, pp. 465-478
-
-
Yang, K.1
Puel, A.2
Zhang, S.3
Eidenschenk, C.4
Ku, C.L.5
Casrouge, A.6
-
142
-
-
0036961559
-
Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies
-
Ferrari S., and Plebani A. Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies. Curr Opin Allergy Clin Immunol 2 (2002) 489-494
-
(2002)
Curr Opin Allergy Clin Immunol
, vol.2
, pp. 489-494
-
-
Ferrari, S.1
Plebani, A.2
-
143
-
-
4644292965
-
The hyper IgM syndrome-an evolving story
-
Etzioni A., and Ochs H.D. The hyper IgM syndrome-an evolving story. Pediatr Res 56 (2004) 519-525
-
(2004)
Pediatr Res
, vol.56
, pp. 519-525
-
-
Etzioni, A.1
Ochs, H.D.2
-
144
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
Levy J., Espanol-Boren T., Thomas C., Fischer A., Tovo P., Bordigoni P., Resnick I., et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131 (1997) 47-54
-
(1997)
J Pediatr
, vol.131
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
Fischer, A.4
Tovo, P.5
Bordigoni, P.6
Resnick, I.7
-
146
-
-
33745665547
-
Mendelian traits that confer predisposition or resistance to specific infections in humans
-
Picard C., Casanova J., and Abel L. Mendelian traits that confer predisposition or resistance to specific infections in humans. Curr Opin Immunol 18 (2006) 383-390
-
(2006)
Curr Opin Immunol
, vol.18
, pp. 383-390
-
-
Picard, C.1
Casanova, J.2
Abel, L.3
-
147
-
-
24344505990
-
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
-
Ball E.V., Stenson P.D., Abeysinghe S.S., Krawczak M., Cooper D.N., and Chuzhanova N.A. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 26 (2005) 205-213
-
(2005)
Hum Mutat
, vol.26
, pp. 205-213
-
-
Ball, E.V.1
Stenson, P.D.2
Abeysinghe, S.S.3
Krawczak, M.4
Cooper, D.N.5
Chuzhanova, N.A.6
|