메뉴 건너뛰기




Volumn 7, Issue DEC, 2016, Pages

Genetic causes of human NK cell deficiency and their effect on NK cell subsets

Author keywords

Immune homeostasis; NK cell deficiency; NK cell development; NK cells; Primary immunodeficiency

Indexed keywords

CD16 ANTIGEN; CD56 ANTIGEN; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; MINICHROMOSOME MAINTENANCE PROTEIN 4; TRANSCRIPTION FACTOR GATA 2;

EID: 85009412340     PISSN: None     EISSN: 16643224     Source Type: Journal    
DOI: 10.3389/fimmu.2016.00545     Document Type: Review
Times cited : (64)

References (72)
  • 1
    • 84895531658 scopus 로고    scopus 로고
    • Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity
    • Ham H, Billadeau DD. Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity. Front Immunol (2014) 5:2. doi:10.3389/fimmu.2014.00002
    • (2014) Front Immunol , vol.5 , pp. 2
    • Ham, H.1    Billadeau, D.D.2
  • 2
    • 33750800121 scopus 로고    scopus 로고
    • Human natural killer cell deficiencies
    • Orange JS. Human natural killer cell deficiencies. Curr Opin Allergy Clin Immunol (2006) 6(6):399-409. doi:10.1097/ACI.0b013e3280106b65
    • (2006) Curr Opin Allergy Clin Immunol , vol.6 , Issue.6 , pp. 399-409
    • Orange, J.S.1
  • 3
    • 84883232593 scopus 로고    scopus 로고
    • Natural killer cell deficiency
    • quiz 526
    • Orange JS. Natural killer cell deficiency. J Allergy Clin Immunol (2013) 132(3):515-25; quiz 526. doi:10.1016/j.jaci.2013.07.020
    • (2013) J Allergy Clin Immunol , vol.132 , Issue.3 , pp. 515-525
    • Orange, J.S.1
  • 4
    • 84949655225 scopus 로고    scopus 로고
    • Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans
    • Voss M, Bryceson YT. Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans. Clin Immunol (2015). doi:10.1016/j.clim.2015.11.004
    • (2015) Clin Immunol
    • Voss, M.1    Bryceson, Y.T.2
  • 6
    • 79551666576 scopus 로고    scopus 로고
    • Revisiting human natural killer cell subset function revealed cytolytic CD56(dim)CD16+ NK cells as rapid producers of abundant IFN-gamma on activation
    • De Maria A, Bozzano F, Cantoni C, Moretta L. Revisiting human natural killer cell subset function revealed cytolytic CD56(dim)CD16+ NK cells as rapid producers of abundant IFN-gamma on activation. Proc Natl Acad Sci U S A (2011) 108(2):728-32. doi:10.1073/pnas.1012356108
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.2 , pp. 728-732
    • De Maria, A.1    Bozzano, F.2    Cantoni, C.3    Moretta, L.4
  • 7
    • 84857489390 scopus 로고    scopus 로고
    • Cytotoxicity of CD56(bright) NK cells towards autologous activated CD4+ T cells is mediated through NKG2D, LFA-1 and TRAIL and dampened via CD94/NKG2A
    • Nielsen N, Ødum N, Ursø B, Lanier LL, Spee P. Cytotoxicity of CD56(bright) NK cells towards autologous activated CD4+ T cells is mediated through NKG2D, LFA-1 and TRAIL and dampened via CD94/NKG2A. PLoS One (2012) 7(2):e31959. doi:10.1371/journal.pone.0031959
    • (2012) PLoS One , vol.7 , Issue.2
    • Nielsen, N.1    Ødum, N.2    Ursø, B.3    Lanier, L.L.4    Spee, P.5
  • 8
    • 77649232232 scopus 로고    scopus 로고
    • Expansion of functionally skewed CD56-negative NK cells in chronic hepatitis C virus infection: correlation with outcome of pegylated IFN-alpha and ribavirin treatment
    • Gonzalez VD, Falconer K, Björkström NK, Blom KG, Weiland O, Ljunggren HG, et al. Expansion of functionally skewed CD56-negative NK cells in chronic hepatitis C virus infection: correlation with outcome of pegylated IFN-alpha and ribavirin treatment. J Immunol (2009) 183(10):6612-8. doi:10.4049/jimmunol.0901437
    • (2009) J Immunol , vol.183 , Issue.10 , pp. 6612-6618
    • Gonzalez, V.D.1    Falconer, K.2    Björkström, N.K.3    Blom, K.G.4    Weiland, O.5    Ljunggren, H.G.6
  • 9
    • 0028845557 scopus 로고
    • Natural killer cell immunodeficiency in HIV disease is manifest by profoundly decreased numbers of CD16+CD56+ cells and expansion of a population of CD16dimCD56-cells with low lytic activity
    • Hu PF, Hultin LE, Hultin P, Hausner MA, Hirji K, Jewett A, et al. Natural killer cell immunodeficiency in HIV disease is manifest by profoundly decreased numbers of CD16+CD56+ cells and expansion of a population of CD16dimCD56-cells with low lytic activity. J Acquir Immune Defic Syndr Hum Retrovirol (1995) 10(3):331-40. doi:10.1097/00042560-199511000-00005
    • (1995) J Acquir Immune Defic Syndr Hum Retrovirol , vol.10 , Issue.3 , pp. 331-340
    • Hu, P.F.1    Hultin, L.E.2    Hultin, P.3    Hausner, M.A.4    Hirji, K.5    Jewett, A.6
  • 10
    • 78049252250 scopus 로고    scopus 로고
    • CD56 negative NK cells: origin, function, and role in chronic viral disease
    • Bjorkstrom NK, Ljunggren HG, Sandberg JK. CD56 negative NK cells: origin, function, and role in chronic viral disease. Trends Immunol (2010) 31(11):401-6. doi:10.1016/j.it.2010.08.003
    • (2010) Trends Immunol , vol.31 , Issue.11 , pp. 401-406
    • Bjorkstrom, N.K.1    Ljunggren, H.G.2    Sandberg, J.K.3
  • 11
    • 84863338121 scopus 로고    scopus 로고
    • Cytomegalovirus reactivation after allogeneic transplantation promotes a lasting increase in educated NKG2C+ natural killer cells with potent function
    • Foley B, Cooley S, Verneris MR, Pitt M, Curtsinger J, Luo X, et al. Cytomegalovirus reactivation after allogeneic transplantation promotes a lasting increase in educated NKG2C+ natural killer cells with potent function. Blood (2012) 119(11):2665-74. doi:10.1182/blood-2011-10-386995
    • (2012) Blood , vol.119 , Issue.11 , pp. 2665-2674
    • Foley, B.1    Cooley, S.2    Verneris, M.R.3    Pitt, M.4    Curtsinger, J.5    Luo, X.6
  • 12
    • 9444273448 scopus 로고    scopus 로고
    • Imprint of human cytomegalovirus infection on the NK cell receptor repertoire
    • Gumá M, Angulo A, Vilches C, Gómez-Lozano N, Malats N, López-Botet M. Imprint of human cytomegalovirus infection on the NK cell receptor repertoire. Blood (2004) 104(12):3664-71. doi:10.1182/blood-2004-05-2058
    • (2004) Blood , vol.104 , Issue.12 , pp. 3664-3671
    • Gumá, M.1    Angulo, A.2    Vilches, C.3    Gómez-Lozano, N.4    Malats, N.5    López-Botet, M.6
  • 13
    • 33646422721 scopus 로고    scopus 로고
    • Expansion of CD94/NKG2C+ NK cells in response to human cytomegalovirus-infected fibroblasts
    • Gumá M, Budt M, Sáez A, Brckalo T, Hengel H, Angulo A, et al. Expansion of CD94/NKG2C+ NK cells in response to human cytomegalovirus-infected fibroblasts. Blood (2006) 107(9):3624-31. doi:10.1182/blood-2005-09-3682
    • (2006) Blood , vol.107 , Issue.9 , pp. 3624-3631
    • Gumá, M.1    Budt, M.2    Sáez, A.3    Brckalo, T.4    Hengel, H.5    Angulo, A.6
  • 14
    • 78651492046 scopus 로고    scopus 로고
    • Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus
    • Björkström NK, Lindgren T, Stoltz M, Fauriat C, Braun M, Evander M, et al. Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus. J Exp Med (2011) 208(1):13-21. doi:10.1084/jem.20100762
    • (2011) J Exp Med , vol.208 , Issue.1 , pp. 13-21
    • Björkström, N.K.1    Lindgren, T.2    Stoltz, M.3    Fauriat, C.4    Braun, M.5    Evander, M.6
  • 15
    • 33845792422 scopus 로고    scopus 로고
    • NKG2C+ NK cells are enriched in AIDS patients with advanced-stage Kaposi's sarcoma
    • Goodier MR, Mela CM, Steel A, Gazzard B, Bower M, Gotch F. NKG2C+ NK cells are enriched in AIDS patients with advanced-stage Kaposi's sarcoma. J Virol (2007) 81(1):430-3. doi:10.1128/JVI.01567-06
    • (2007) J Virol , vol.81 , Issue.1 , pp. 430-433
    • Goodier, M.R.1    Mela, C.M.2    Steel, A.3    Gazzard, B.4    Bower, M.5    Gotch, F.6
  • 16
    • 73649147373 scopus 로고    scopus 로고
    • Chronic HIV-1 viremia reverses NKG2A/NKG2C ratio on natural killer cells in patients with human cytomegalovirus co-infection
    • Brunetta E, Fogli M, Varchetta S, Bozzo L, Hudspeth KL, Marcenaro E, et al. Chronic HIV-1 viremia reverses NKG2A/NKG2C ratio on natural killer cells in patients with human cytomegalovirus co-infection. AIDS (2010) 24(1):27-34. doi:10.1097/QAD.0b013e3283328d1f
    • (2010) AIDS , vol.24 , Issue.1 , pp. 27-34
    • Brunetta, E.1    Fogli, M.2    Varchetta, S.3    Bozzo, L.4    Hudspeth, K.L.5    Marcenaro, E.6
  • 17
    • 84888321023 scopus 로고    scopus 로고
    • Cytomegalovirus-seropositive children show inhibition of in vitro EBV infection that is associated with CD8+CD57+ T cell enrichment and IFN-gamma
    • Sohlberg E, Saghafian-Hedengren S, Rasul E, Marchini G, Nilsson C, Klein E, et al. Cytomegalovirus-seropositive children show inhibition of in vitro EBV infection that is associated with CD8+CD57+ T cell enrichment and IFN-gamma. J Immunol (2013) 191(11):5669-76. doi:10.4049/jimmunol.1301343
    • (2013) J Immunol , vol.191 , Issue.11 , pp. 5669-5676
    • Sohlberg, E.1    Saghafian-Hedengren, S.2    Rasul, E.3    Marchini, G.4    Nilsson, C.5    Klein, E.6
  • 18
    • 84856055597 scopus 로고    scopus 로고
    • CMV drives clonal expansion of NKG2C+ NK cells expressing self-specific KIRs in chronic hepatitis patients
    • Béziat V, Dalgard O, Asselah T, Halfon P, Bedossa P, Boudifa A, et al. CMV drives clonal expansion of NKG2C+ NK cells expressing self-specific KIRs in chronic hepatitis patients. Eur J Immunol (2012) 42(2):447-57. doi:10.1002/eji.201141826
    • (2012) Eur J Immunol , vol.42 , Issue.2 , pp. 447-457
    • Béziat, V.1    Dalgard, O.2    Asselah, T.3    Halfon, P.4    Bedossa, P.5    Boudifa, A.6
  • 19
    • 80053440812 scopus 로고    scopus 로고
    • Unconventional repertoire profile is imprinted during acute chikungunya infection for natural killer cells polarization toward cytotoxicity
    • Petitdemange C, Becquart P, Wauquier N, Béziat V, Debré P, Leroy EM, et al. Unconventional repertoire profile is imprinted during acute chikungunya infection for natural killer cells polarization toward cytotoxicity. PLoS Pathog (2011) 7(9):e1002268. doi:10.1371/journal.ppat.1002268
    • (2011) PLoS Pathog , vol.7 , Issue.9
    • Petitdemange, C.1    Becquart, P.2    Wauquier, N.3    Béziat, V.4    Debré, P.5    Leroy, E.M.6
  • 20
    • 84924955835 scopus 로고    scopus 로고
    • Epigenetic modification and antibody-dependent expansion of memory-like NK cells in human cytomegalovirus-infected individuals
    • Lee J, Zhang T, Hwang I, Kim A, Nitschke L, Kim M, et al. Epigenetic modification and antibody-dependent expansion of memory-like NK cells in human cytomegalovirus-infected individuals. Immunity (2015) 42(3):431-42. doi:10.1016/j.immuni.2015.02.013
    • (2015) Immunity , vol.42 , Issue.3 , pp. 431-442
    • Lee, J.1    Zhang, T.2    Hwang, I.3    Kim, A.4    Nitschke, L.5    Kim, M.6
  • 21
    • 84873565353 scopus 로고    scopus 로고
    • Cutting edge: antibody-dependent memory-like NK cells distinguished by FcRγ deficiency
    • Zhang T, Scott JM, Hwang I, Kim S. Cutting edge: antibody-dependent memory-like NK cells distinguished by FcRγ deficiency. J Immunol (2013) 190(4):1402-6. doi:10.4049/jimmunol.1203034
    • (2013) J Immunol , vol.190 , Issue.4 , pp. 1402-1406
    • Zhang, T.1    Scott, J.M.2    Hwang, I.3    Kim, S.4
  • 22
    • 84924984567 scopus 로고    scopus 로고
    • Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function
    • Schlums H, Cichocki F, Tesi B, Theorell J, Beziat V, Holmes TD, et al. Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function. Immunity (2015) 42(3):443-56. doi:10.1016/j.immuni.2015.02.008
    • (2015) Immunity , vol.42 , Issue.3 , pp. 443-456
    • Schlums, H.1    Cichocki, F.2    Tesi, B.3    Theorell, J.4    Beziat, V.5    Holmes, T.D.6
  • 23
    • 84886419332 scopus 로고    scopus 로고
    • Genetic and environmental determinants of human NK cell diversity revealed by mass cytometry
    • Horowitz A, Strauss-Albee DM, Leipold M, Kubo J, Nemat-Gorgani N, Dogan OC, et al. Genetic and environmental determinants of human NK cell diversity revealed by mass cytometry. Sci Transl Med (2013) 5(208):208ra145. doi:10.1126/scitranslmed.3006702
    • (2013) Sci Transl Med , vol.5 , Issue.208
    • Horowitz, A.1    Strauss-Albee, D.M.2    Leipold, M.3    Kubo, J.4    Nemat-Gorgani, N.5    Dogan, O.C.6
  • 24
    • 84937923776 scopus 로고    scopus 로고
    • Human NK cell repertoire diversity reflects immune experience and correlates with viral susceptibility
    • Strauss-Albee DM, Fukuyama J, Liang EC, Yao Y, Jarrell JA, Drake AL, et al. Human NK cell repertoire diversity reflects immune experience and correlates with viral susceptibility. Sci Transl Med (2015) 7(297):297ra115. doi:10.1126/scitranslmed.aac5722
    • (2015) Sci Transl Med , vol.7 , Issue.297
    • Strauss-Albee, D.M.1    Fukuyama, J.2    Liang, E.C.3    Yao, Y.4    Jarrell, J.A.5    Drake, A.L.6
  • 25
    • 34247150402 scopus 로고    scopus 로고
    • CD56brightCD16-killer Ig-like receptor-NK cells display longer telomeres and acquire features of CD56dim NK cells upon activation
    • Romagnani C, Juelke K, Falco M, Morandi B, D'Agostino A, Costa R, et al. CD56brightCD16-killer Ig-like receptor-NK cells display longer telomeres and acquire features of CD56dim NK cells upon activation. J Immunol (2007) 178(8):4947-55. doi:10.4049/jimmunol.178.8.4947
    • (2007) J Immunol , vol.178 , Issue.8 , pp. 4947-4955
    • Romagnani, C.1    Juelke, K.2    Falco, M.3    Morandi, B.4    D'Agostino, A.5    Costa, R.6
  • 26
    • 49649107807 scopus 로고    scopus 로고
    • An unusual CD56(bright) CD16(low) NK cell subset dominates the early posttransplant period following HLA-matched hematopoietic stem cell transplantation
    • Dulphy N, Haas P, Busson M, Belhadj S, Peffault de Latour R, Robin M, et al. An unusual CD56(bright) CD16(low) NK cell subset dominates the early posttransplant period following HLA-matched hematopoietic stem cell transplantation. J Immunol (2008) 181(3):2227-37. doi:10.4049/jimmunol.181.3.2227
    • (2008) J Immunol , vol.181 , Issue.3 , pp. 2227-2237
    • Dulphy, N.1    Haas, P.2    Busson, M.3    Belhadj, S.4    Peffault de Latour, R.5    Robin, M.6
  • 27
    • 34250802584 scopus 로고    scopus 로고
    • CD56bright human NK cells differentiate into CD56dim cells: role of contact with peripheral fibroblasts
    • Chan A, Hong DL, Atzberger A, Kollnberger S, Filer AD, Buckley CD, et al. CD56bright human NK cells differentiate into CD56dim cells: role of contact with peripheral fibroblasts. J Immunol (2007) 179(1):89-94. doi:10.4049/jimmunol.179.1.89
    • (2007) J Immunol , vol.179 , Issue.1 , pp. 89-94
    • Chan, A.1    Hong, D.L.2    Atzberger, A.3    Kollnberger, S.4    Filer, A.D.5    Buckley, C.D.6
  • 28
    • 34547109885 scopus 로고    scopus 로고
    • A subpopulation of human peripheral blood NK cells that lacks inhibitory receptors for self-MHC is developmentally immature
    • Cooley S, Xiao F, Pitt M, Gleason M, McCullar V, Bergemann TL, et al. A subpopulation of human peripheral blood NK cells that lacks inhibitory receptors for self-MHC is developmentally immature. Blood (2007) 110(2):578-86. doi:10.1182/blood-2006-07-036228
    • (2007) Blood , vol.110 , Issue.2 , pp. 578-586
    • Cooley, S.1    Xiao, F.2    Pitt, M.3    Gleason, M.4    McCullar, V.5    Bergemann, T.L.6
  • 29
    • 60549117539 scopus 로고    scopus 로고
    • IL-15 trans-presentation promotes human NK cell development and differentiation in vivo
    • Huntington ND, Legrand N, Alves NL, Jaron B, Weijer K, Plet A, et al. IL-15 trans-presentation promotes human NK cell development and differentiation in vivo. J Exp Med (2009) 206(1):25-34. doi:10.1084/jem.20082013
    • (2009) J Exp Med , vol.206 , Issue.1 , pp. 25-34
    • Huntington, N.D.1    Legrand, N.2    Alves, N.L.3    Jaron, B.4    Weijer, K.5    Plet, A.6
  • 30
    • 84898725160 scopus 로고    scopus 로고
    • Clonal tracking of rhesus macaque hematopoiesis highlights a distinct lineage origin for natural killer cells
    • Wu C, Li B, Lu R, Koelle SJ, Yang Y, Jares A, et al. Clonal tracking of rhesus macaque hematopoiesis highlights a distinct lineage origin for natural killer cells. Cell Stem Cell (2014) 14(4):486-99. doi:10.1016/j.stem.2014.01.020
    • (2014) Cell Stem Cell , vol.14 , Issue.4 , pp. 486-499
    • Wu, C.1    Li, B.2    Lu, R.3    Koelle, S.J.4    Yang, Y.5    Jares, A.6
  • 31
    • 84857872642 scopus 로고    scopus 로고
    • Unraveling human natural killer cell deficiency
    • Orange JS. Unraveling human natural killer cell deficiency. J Clin Invest (2012) 122(3):798-801. doi:10.1172/JCI62620
    • (2012) J Clin Invest , vol.122 , Issue.3 , pp. 798-801
    • Orange, J.S.1
  • 32
    • 0024315206 scopus 로고
    • Severe herpesvirus infections in an adolescent without natural killer cells
    • Biron CA, Byron KS, Sullivan JL. Severe herpesvirus infections in an adolescent without natural killer cells. N Engl J Med (1989) 320(26):1731-5. doi:10.1056/NEJM198906293202605
    • (1989) N Engl J Med , vol.320 , Issue.26 , pp. 1731-1735
    • Biron, C.A.1    Byron, K.S.2    Sullivan, J.L.3
  • 33
    • 84878262930 scopus 로고    scopus 로고
    • Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset
    • Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, et al. Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood (2013) 121(14):2669-77. doi:10.1182/blood-2012-09-453969
    • (2013) Blood , vol.121 , Issue.14 , pp. 2669-2677
    • Mace, E.M.1    Hsu, A.P.2    Monaco-Shawver, L.3    Makedonas, G.4    Rosen, J.B.5    Dropulic, L.6
  • 34
    • 80052089944 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    • Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 118(10):2656-8. doi:10.1182/blood-2011-06-360313
    • (2011) Blood , vol.118 , Issue.10 , pp. 2656-2658
    • Dickinson, R.E.1    Griffin, H.2    Bigley, V.3    Reynard, L.N.4    Hussain, R.5    Haniffa, M.6
  • 35
    • 79961074298 scopus 로고    scopus 로고
    • Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    • Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 118(10):2653-5. doi:10.1182/blood-2011-05-356352
    • (2011) Blood , vol.118 , Issue.10 , pp. 2653-2655
    • Hsu, A.P.1    Sampaio, E.P.2    Khan, J.3    Calvo, K.R.4    Lemieux, J.E.5    Patel, S.Y.6
  • 36
    • 77949902065 scopus 로고    scopus 로고
    • Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
    • Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2010) 115(8):1519-29. doi:10.1182/blood-2009-03-208629
    • (2010) Blood , vol.115 , Issue.8 , pp. 1519-1529
    • Vinh, D.C.1    Patel, S.Y.2    Uzel, G.3    Anderson, V.L.4    Freeman, A.F.5    Olivier, K.N.6
  • 37
    • 84971378674 scopus 로고    scopus 로고
    • Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations
    • Maciejewski-Duval A, Meuris F, Bignon A, Aknin ML, Balabanian K, Faivre L, et al. Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. J Leukoc Biol (2016) 99(6):1065-76. doi:10.1189/jlb.5MA0815-388R
    • (2016) J Leukoc Biol , vol.99 , Issue.6 , pp. 1065-1076
    • Maciejewski-Duval, A.1    Meuris, F.2    Bignon, A.3    Aknin, M.L.4    Balabanian, K.5    Faivre, L.6
  • 38
    • 84894078016 scopus 로고    scopus 로고
    • The evolution of cellular deficiency in GATA2 mutation
    • Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, et al. The evolution of cellular deficiency in GATA2 mutation. Blood (2014) 123(6):863-74. doi:10.1182/blood-2013-07-517151
    • (2014) Blood , vol.123 , Issue.6 , pp. 863-874
    • Dickinson, R.E.1    Milne, P.2    Jardine, L.3    Zandi, S.4    Swierczek, S.I.5    McGovern, N.6
  • 39
    • 84894095710 scopus 로고    scopus 로고
    • GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
    • Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood (2014) 123(6):809-21. doi:10.1182/blood-2013-07-515528
    • (2014) Blood , vol.123 , Issue.6 , pp. 809-821
    • Spinner, M.A.1    Sanchez, L.A.2    Hsu, A.P.3    Shaw, P.A.4    Zerbe, C.S.5    Calvo, K.R.6
  • 40
    • 80053383273 scopus 로고    scopus 로고
    • Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    • Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet (2011) 43(10):1012-7. doi:10.1038/ng.913
    • (2011) Nat Genet , vol.43 , Issue.10 , pp. 1012-1017
    • Hahn, C.N.1    Chong, C.E.2    Carmichael, C.L.3    Wilkins, E.J.4    Brautigan, P.J.5    Li, X.C.6
  • 41
    • 84962621954 scopus 로고    scopus 로고
    • Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents
    • Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood (2016) 127(11):1387-97. doi:10.1182/blood-2015-09-669937
    • (2016) Blood , vol.127 , Issue.11 , pp. 1387-1397
    • Wlodarski, M.W.1    Hirabayashi, S.2    Pastor, V.3    Starý, J.4    Hasle, H.5    Masetti, R.6
  • 42
    • 22144476881 scopus 로고    scopus 로고
    • Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis
    • Rodrigues NP, Janzen V, Forkert R, Dombkowski DM, Boyd AS, Orkin SH, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood (2005) 106(2):477-84. doi:10.1182/blood-2004-08-2989
    • (2005) Blood , vol.106 , Issue.2 , pp. 477-484
    • Rodrigues, N.P.1    Janzen, V.2    Forkert, R.3    Dombkowski, D.M.4    Boyd, A.S.5    Orkin, S.H.6
  • 43
    • 63849118537 scopus 로고    scopus 로고
    • High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle
    • Tipping AJ, Pina C, Castor A, Hong D, Rodrigues NP, Lazzari L, et al. High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle. Blood (2009) 113(12):2661-72. doi:10.1182/blood-2008-06-161117
    • (2009) Blood , vol.113 , Issue.12 , pp. 2661-2672
    • Tipping, A.J.1    Pina, C.2    Castor, A.3    Hong, D.4    Rodrigues, N.P.5    Lazzari, L.6
  • 44
    • 11144358198 scopus 로고    scopus 로고
    • A gene atlas of the mouse and human protein-encoding transcriptomes
    • Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, Block D, et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci U S A (2004) 101(16):6062-7. doi:10.1073/pnas.0400782101
    • (2004) Proc Natl Acad Sci U S A , vol.101 , Issue.16 , pp. 6062-6067
    • Su, A.I.1    Wiltshire, T.2    Batalov, S.3    Lapp, H.4    Ching, K.A.5    Block, D.6
  • 45
    • 84884297351 scopus 로고    scopus 로고
    • An expression atlas of human primary cells: inference of gene function from coexpression networks
    • Mabbott NA, Baillie JK, Brown H, Freeman TC, Hume DA. An expression atlas of human primary cells: inference of gene function from coexpression networks. BMC Genomics (2013) 14:632. doi:10.1186/1471-2164-14-632
    • (2013) BMC Genomics , vol.14 , pp. 632
    • Mabbott, N.A.1    Baillie, J.K.2    Brown, H.3    Freeman, T.C.4    Hume, D.A.5
  • 46
    • 76249090489 scopus 로고    scopus 로고
    • BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources
    • Wu C, Orozco C, Boyer J, Leglise M, Goodale J, Batalov S, et al. BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol (2009) 10(11):R130. doi:10.1186/gb-2009-10-11-r130
    • (2009) Genome Biol , vol.10 , Issue.11 , pp. R130
    • Wu, C.1    Orozco, C.2    Boyer, J.3    Leglise, M.4    Goodale, J.5    Batalov, S.6
  • 49
    • 0021147986 scopus 로고
    • Pathogenesis of murine cytomegalovirus infection in natural killer cell-depleted mice
    • Bukowski JF, Woda BA, Welsh RM. Pathogenesis of murine cytomegalovirus infection in natural killer cell-depleted mice. J Virol (1984) 52(1):119-28.
    • (1984) J Virol , vol.52 , Issue.1 , pp. 119-128
    • Bukowski, J.F.1    Woda, B.A.2    Welsh, R.M.3
  • 50
    • 0025828983 scopus 로고
    • Natural killer (NK) cell response to virus infections in mice with severe combined immunodeficiency. The stimulation of NK cells and the NK cell-dependent control of virus infections occur independently of T and B cell function
    • Welsh RM, Brubaker JO, Vargas-Cortes M, O'Donnell CL. Natural killer (NK) cell response to virus infections in mice with severe combined immunodeficiency. The stimulation of NK cells and the NK cell-dependent control of virus infections occur independently of T and B cell function. J Exp Med (1991) 173(5):1053-63. doi:10.1084/jem.173.5.1053
    • (1991) J Exp Med , vol.173 , Issue.5 , pp. 1053-1063
    • Welsh, R.M.1    Brubaker, J.O.2    Vargas-Cortes, M.3    O'Donnell, C.L.4
  • 51
    • 0028036726 scopus 로고
    • Antiviral activity of NK 1.1+ natural killer cells in C57BL/6 scid mice infected with murine cytomegalovirus
    • Welsh RM, O'Donnell CL, Shultz LD. Antiviral activity of NK 1.1+ natural killer cells in C57BL/6 scid mice infected with murine cytomegalovirus. Nat Immun (1994) 13(5):239-45.
    • (1994) Nat Immun , vol.13 , Issue.5 , pp. 239-245
    • Welsh, R.M.1    O'Donnell, C.L.2    Shultz, L.D.3
  • 52
    • 33645467271 scopus 로고    scopus 로고
    • A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8
    • Eidenschenk C, Dunne J, Jouanguy E, Fourlinnie C, Gineau L, Bacq D, et al. A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. Am J Hum Genet (2006) 78(4):721-7. doi:10.1086/503269
    • (2006) Am J Hum Genet , vol.78 , Issue.4 , pp. 721-727
    • Eidenschenk, C.1    Dunne, J.2    Jouanguy, E.3    Fourlinnie, C.4    Gineau, L.5    Bacq, D.6
  • 53
    • 84857815874 scopus 로고    scopus 로고
    • Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
    • Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, et al. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest (2012) 122(3):821-32. doi:10.1172/JCI61014
    • (2012) J Clin Invest , vol.122 , Issue.3 , pp. 821-832
    • Gineau, L.1    Cognet, C.2    Kara, N.3    Lach, F.P.4    Dunne, J.5    Veturi, U.6
  • 54
    • 84857875264 scopus 로고    scopus 로고
    • MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
    • Hughes CR, Guasti L, Meimaridou E, Chuang CH, Schimenti JC, King PJ, et al. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest (2012) 122(3):814-20. doi:10.1172/JCI60224
    • (2012) J Clin Invest , vol.122 , Issue.3 , pp. 814-820
    • Hughes, C.R.1    Guasti, L.2    Meimaridou, E.3    Chuang, C.H.4    Schimenti, J.C.5    King, P.J.6
  • 55
    • 47549098126 scopus 로고    scopus 로고
    • A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population
    • O'Riordan SM, Lynch SA, Hindmarsh PC, Chan LF, Clark AJ, Costigan C. A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. J Clin Endocrinol Metab (2008) 93(7):2896-9. doi:10.1210/jc.2008-0034
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.7 , pp. 2896-2899
    • O'Riordan, S.M.1    Lynch, S.A.2    Hindmarsh, P.C.3    Chan, L.F.4    Clark, A.J.5    Costigan, C.6
  • 56
    • 65549156128 scopus 로고    scopus 로고
    • The human GINS complex associates with Cdc45 and MCM and is essential for DNA replication
    • Aparicio T, Guillou E, Coloma J, Montoya G, Méndez J. The human GINS complex associates with Cdc45 and MCM and is essential for DNA replication. Nucleic Acids Res (2009) 37(7):2087-95. doi:10.1093/nar/gkp065
    • (2009) Nucleic Acids Res , vol.37 , Issue.7 , pp. 2087-2095
    • Aparicio, T.1    Guillou, E.2    Coloma, J.3    Montoya, G.4    Méndez, J.5
  • 57
    • 70349918231 scopus 로고    scopus 로고
    • Structural biology of MCM helicases
    • Costa A, Onesti S. Structural biology of MCM helicases. Crit Rev Biochem Mol Biol (2009) 44(5):326-42. doi:10.1080/10409230903186012
    • (2009) Crit Rev Biochem Mol Biol , vol.44 , Issue.5 , pp. 326-342
    • Costa, A.1    Onesti, S.2
  • 58
    • 33845877445 scopus 로고    scopus 로고
    • A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice
    • Shima N, Alcaraz A, Liachko I, Buske TR, Andrews CA, Munroe RJ, et al. A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice. Nat Genet (2007) 39(1):93-8. doi:10.1038/ng1936
    • (2007) Nat Genet , vol.39 , Issue.1 , pp. 93-98
    • Shima, N.1    Alcaraz, A.2    Liachko, I.3    Buske, T.R.4    Andrews, C.A.5    Munroe, R.J.6
  • 59
    • 79955011677 scopus 로고    scopus 로고
    • Human NK cells proliferate and die in vivo more rapidly than T cells in healthy young and elderly adults
    • Lutz CT, Karapetyan A, Al-Attar A, Shelton BJ, Holt KJ, Tucker JH, et al. Human NK cells proliferate and die in vivo more rapidly than T cells in healthy young and elderly adults. J Immunol (2011) 186(8):4590-8. doi:10.4049/jimmunol.1002732
    • (2011) J Immunol , vol.186 , Issue.8 , pp. 4590-4598
    • Lutz, C.T.1    Karapetyan, A.2    Al-Attar, A.3    Shelton, B.J.4    Holt, K.J.5    Tucker, J.H.6
  • 60
    • 14844320572 scopus 로고    scopus 로고
    • Fatal varicella associated with selective natural killer cell deficiency
    • Etzioni A, Eidenschenk C, Katz R, Beck R, Casanova JL, Pollack S. Fatal varicella associated with selective natural killer cell deficiency. J Pediatr (2005) 146(3):423-5. doi:10.1016/j.jpeds.2004.11.022
    • (2005) J Pediatr , vol.146 , Issue.3 , pp. 423-425
    • Etzioni, A.1    Eidenschenk, C.2    Katz, R.3    Beck, R.4    Casanova, J.L.5    Pollack, S.6
  • 61
    • 84943457273 scopus 로고    scopus 로고
    • A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency
    • Hanna S, Béziat V, Jouanguy E, Casanova JL, Etzioni A. A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. J Allergy Clin Immunol (2015) 136(4):1113-4. doi:10.1016/j.jaci.2015.04.021
    • (2015) J Allergy Clin Immunol , vol.136 , Issue.4 , pp. 1113-1114
    • Hanna, S.1    Béziat, V.2    Jouanguy, E.3    Casanova, J.L.4    Etzioni, A.5
  • 62
    • 84935746915 scopus 로고    scopus 로고
    • Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population
    • Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, et al. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. Clin Genet (2015) 88(2):177-81. doi:10.1111/cge.12459
    • (2015) Clin Genet , vol.88 , Issue.2 , pp. 177-181
    • Fedick, A.M.1    Shi, L.2    Jalas, C.3    Treff, N.R.4    Ekstein, J.5    Kornreich, R.6
  • 63
    • 84884656362 scopus 로고    scopus 로고
    • A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
    • Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, et al. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet (2013) 9(8):e1003695. doi:10.1371/journal.pgen.1003695
    • (2013) PLoS Genet , vol.9 , Issue.8
    • Ballew, B.J.1    Joseph, V.2    De, S.3    Sarek, G.4    Vannier, J.B.5    Stracker, T.6
  • 64
    • 84876503523 scopus 로고    scopus 로고
    • Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    • Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet (2013) 132(4):473-80. doi:10.1007/s00439-013-1265-8
    • (2013) Hum Genet , vol.132 , Issue.4 , pp. 473-480
    • Ballew, B.J.1    Yeager, M.2    Jacobs, K.3    Giri, N.4    Boland, J.5    Burdett, L.6
  • 65
    • 0020060566 scopus 로고
    • A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections
    • Fleisher G, Starr S, Koven N, Kamiya H, Douglas SD, Henle W. A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections. J Pediatr (1982) 100(5):727-30. doi:10.1016/S0022-3476(82)80572-6
    • (1982) J Pediatr , vol.100 , Issue.5 , pp. 727-730
    • Fleisher, G.1    Starr, S.2    Koven, N.3    Kamiya, H.4    Douglas, S.D.5    Henle, W.6
  • 67
    • 84907260701 scopus 로고    scopus 로고
    • Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation
    • Salem S, Langlais D, Lefebvre F, Bourque G, Bigley V, Haniffa M, et al. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. Blood (2014) 124(12):1894-904. doi:10.1182/blood-2014-04-570879
    • (2014) Blood , vol.124 , Issue.12 , pp. 1894-1904
    • Salem, S.1    Langlais, D.2    Lefebvre, F.3    Bourque, G.4    Bigley, V.5    Haniffa, M.6
  • 69
    • 0029859088 scopus 로고    scopus 로고
    • Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections
    • de Vries E, Koene HR, Vossen JM, Gratama JW, von dem Borne AE, Waaijer JL, et al. Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections. Blood (1996) 88(8):3022-7.
    • (1996) Blood , vol.88 , Issue.8 , pp. 3022-3027
    • de Vries, E.1    Koene, H.R.2    Vossen, J.M.3    Gratama, J.W.4    von dem Borne, A.E.5    Waaijer, J.L.6
  • 70
    • 0029892132 scopus 로고    scopus 로고
    • Natural killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II)
    • Jawahar S, Moody C, Chan M, Finberg R, Geha R, Chatila T. Natural killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II). Clin Exp Immunol (1996) 103(3):408-13. doi:10.1111/j.1365-2249.1996.tb08295.x
    • (1996) Clin Exp Immunol , vol.103 , Issue.3 , pp. 408-413
    • Jawahar, S.1    Moody, C.2    Chan, M.3    Finberg, R.4    Geha, R.5    Chatila, T.6
  • 71
    • 84867177624 scopus 로고    scopus 로고
    • Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity
    • Grier JT, Forbes LR, Monaco-Shawver L, Oshinsky J, Atkinson TP, Moody C, et al. Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. J Clin Invest (2012) 122(10):3769-80. doi:10.1172/JCI64837
    • (2012) J Clin Invest , vol.122 , Issue.10 , pp. 3769-3780
    • Grier, J.T.1    Forbes, L.R.2    Monaco-Shawver, L.3    Oshinsky, J.4    Atkinson, T.P.5    Moody, C.6
  • 72
    • 84963954943 scopus 로고    scopus 로고
    • Critical role of CD2 co-stimulation in adaptive natural killer cell responses revealed in NKG2C-deficient humans
    • Liu LL, Landskron J, Ask EH, Enqvist M, Sohlberg E, Traherne JA, et al. Critical role of CD2 co-stimulation in adaptive natural killer cell responses revealed in NKG2C-deficient humans. Cell Rep (2016) 15(5):1088-99. doi:10.1016/j.celrep.2016.04.005
    • (2016) Cell Rep , vol.15 , Issue.5 , pp. 1088-1099
    • Liu, L.L.1    Landskron, J.2    Ask, E.H.3    Enqvist, M.4    Sohlberg, E.5    Traherne, J.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.