메뉴 건너뛰기




Volumn 18, Issue 6, 2006, Pages 347-361

Corrigendum to "Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features" [Semin. Immunol. 18 (2006) 347-361] (DOI:10.1016/j.smim.2006.07.010);Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features

Author keywords

IFN ; IL 12; IL 23; Mycobacterium; Primary immunodeficiency; Tuberculosis

Indexed keywords

ANTIBIOTIC AGENT; BCG VACCINE; GAMMA INTERFERON; I KAPPA B KINASE GAMMA; INTERLEUKIN 12; INTERLEUKIN 12P40; INTERLEUKIN 23; LEUCINE ZIPPER PROTEIN; STAT1 PROTEIN;

EID: 33749600724     PISSN: 10445323     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.smim.2007.02.002     Document Type: Erratum
Times cited : (399)

References (147)
  • 1
    • 13444266370 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 12
    • 29144484290 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 17
  • 18
    • 33645081359 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 24
    • 0032103249 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 44
    • 0038759100 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 50
    • 0033054079 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 57
  • 58
    • 33746710391 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 62
    • 0030889207 scopus 로고    scopus 로고
    • 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
  • 63
    • 2542480887 scopus 로고    scopus 로고
    • Immunity to tuberculosis
    • North R.J., and Jung Y.J. Immunity to tuberculosis. Annu Rev Immunol 22 (2004) 599-623
    • (2004) Annu Rev Immunol , vol.22 , pp. 599-623
    • North, R.J.1    Jung, Y.J.2
  • 64
    • 0030934873 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 70
    • 0036148873 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 88
    • 0034962374 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 92
    • 0034023759 scopus 로고    scopus 로고
    • The Jak-STAT pathway
    • Imada K., and Leonard W.J. The Jak-STAT pathway. Mol Immunol 37 (2000) 1-11
    • (2000) Mol Immunol , vol.37 , pp. 1-11
    • Imada, K.1    Leonard, W.J.2
  • 93
    • 21844444831 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 99
    • 0035016730 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 103
    • 0037218610 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 115
    • 3142546430 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 119
    • 33646824119 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 123
    • 33645473267 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 129
    • 2942627117 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 134
    • 1942500166 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 146
    • 33745665547 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.