메뉴 건너뛰기




Volumn 374, Issue 11, 2016, Pages 1032-1043

Loss of B cells in patients with heterozygous mutations in IKAROS

(31)  Kuehn, Hye Sun a   Boisson, Bertrand c   Cunningham Rundles, Charlotte e   Reichenbach, Janine g,h,i   Stray Pedersen, Asbjørg j,k   Gelfand, Erwin W m   Maffucci, Patrick e   Pierce, Keith R l   Abbott, Jordan K m   Voelkerding, Karl V n   South, Sarah T n   Augustine, Nancy H n   Bush, Jeana S p   Dolen, William K p   Wray, Betty B p   Itan, Yuval c   Cobat, Aurelie c,f   Sorte, Hanne Sørmo k   Ganesan, Sundar b   Prader, Seraina g,h   more..


Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A13; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; IKAROS TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 2; IKZF1 PROTEIN, HUMAN; IMMUNOGLOBULIN G; LEUKOCYTE ANTIGEN;

EID: 84961859429     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1512234     Document Type: Article
Times cited : (206)

References (41)
  • 1
    • 66749092909 scopus 로고    scopus 로고
    • Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions
    • Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol 2009; 145: 709-27.
    • (2009) Br J Haematol , vol.145 , pp. 709-727
    • Chapel, H.1    Cunningham-Rundles, C.2
  • 2
    • 84903740988 scopus 로고    scopus 로고
    • Clinical picture and treatment of 2212 patients with common variable immunodeficiency
    • Gathmann B, Mahlaoui N, Gérard L, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 2014; 134: 116-26.
    • (2014) J Allergy Clin Immunol , vol.134 , pp. 116-126
    • Gathmann, B.1    Mahlaoui, N.2    Gérard, L.3
  • 3
    • 84941025793 scopus 로고    scopus 로고
    • Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency
    • Fliegauf M, Bryant VL, Frede N, et al. Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency. Am J Hum Genet 2015; 97: 389-403.
    • (2015) Am J Hum Genet , vol.97 , pp. 389-403
    • Fliegauf, M.1    Bryant, V.L.2    Frede, N.3
  • 4
    • 84900846113 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency
    • Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. Front Immunol 2014; 5: 162.
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3
  • 5
    • 84891030577 scopus 로고    scopus 로고
    • Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
    • Lucas CL, Kuehn HS, Zhao F, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol 2014; 15: 88-97.
    • (2014) Nat Immunol , vol.15 , pp. 88-97
    • Lucas, C.L.1    Kuehn, H.S.2    Zhao, F.3
  • 6
    • 84890248312 scopus 로고    scopus 로고
    • Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
    • Chen K, Coonrod EM, Kumánovics A, et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet 2013; 93: 812-24.
    • (2013) Am J Hum Genet , vol.93 , pp. 812-824
    • Chen, K.1    Coonrod, E.M.2    Kumánovics, A.3
  • 7
    • 84901496122 scopus 로고    scopus 로고
    • Discovery of single-gene inborn errors of immunity by next generation sequencing
    • Conley ME, Casanova JL. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol 2014; 30: 17-23.
    • (2014) Curr Opin Immunol , vol.30 , pp. 17-23
    • Conley, M.E.1    Casanova, J.L.2
  • 8
    • 84905828993 scopus 로고    scopus 로고
    • Identification of copy number variants from exome sequence data
    • Samarakoon PS, Sorte HS, Kristiansen BE, et al. Identification of copy number variants from exome sequence data. BMC Genomics 2014; 15: 661.
    • (2014) BMC Genomics , vol.15 , pp. 661
    • Samarakoon, P.S.1    Sorte, H.S.2    Kristiansen, B.E.3
  • 9
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838-46.
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 10
    • 9644260572 scopus 로고    scopus 로고
    • Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7) (p11.2 p14) involving the GLI3 and ZNFN1A1 genes
    • Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7) (p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer 2005; 42: 82-6.
    • (2005) Genes Chromosomes Cancer , vol.42 , pp. 82-86
    • Mendoza-Londono, R.1    Kashork, C.D.2    Shaffer, L.G.3    Krance, R.4    Plon, S.E.5
  • 11
    • 84927172713 scopus 로고    scopus 로고
    • Ikaros fingers on lymphocyte differentiation
    • Yoshida T, Georgopoulos K. Ikaros fingers on lymphocyte differentiation. Int J Hematol 2014; 100: 220-9.
    • (2014) Int J Hematol , vol.100 , pp. 220-229
    • Yoshida, T.1    Georgopoulos, K.2
  • 12
    • 0025943384 scopus 로고
    • LyF-1, a transcriptional regulator that interacts with a novel class of promoters for lymphocyte-specific genes
    • Lo K, Landau NR, Smale ST. LyF-1, a transcriptional regulator that interacts with a novel class of promoters for lymphocyte-specific genes. Mol Cell Biol 1991; 11: 5229-43.
    • (1991) Mol Cell Biol , vol.11 , pp. 5229-5243
    • Lo, K.1    Landau, N.R.2    Smale, S.T.3
  • 13
    • 0026451087 scopus 로고
    • Ikaros, an early lymphoid-specific transcription factor and a putative mediator for T cell commitment
    • Georgopoulos K, Moore DD, Derfler B. Ikaros, an early lymphoid-specific transcription factor and a putative mediator for T cell commitment. Science 1992; 258: 808-12.
    • (1992) Science , vol.258 , pp. 808-812
    • Georgopoulos, K.1    Moore, D.D.2    Derfler, B.3
  • 14
    • 0033103013 scopus 로고    scopus 로고
    • Ikaros sets thresholds for T cell activation and regulates chromosome propagation
    • Avitahl N, Winandy S, Friedrich C, Jones B, Ge Y, Georgopoulos K. Ikaros sets thresholds for T cell activation and regulates chromosome propagation. Immunity 1999; 10: 333-43.
    • (1999) Immunity , vol.10 , pp. 333-343
    • Avitahl, N.1    Winandy, S.2    Friedrich, C.3    Jones, B.4    Ge, Y.5    Georgopoulos, K.6
  • 16
    • 0031437119 scopus 로고    scopus 로고
    • Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin
    • Brown KE, Guest SS, Smale ST, Hahm K, Merkenschlager M, Fisher AG. Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin. Cell 1997; 91: 845-54.
    • (1997) Cell , vol.91 , pp. 845-854
    • Brown, K.E.1    Guest, S.S.2    Smale, S.T.3    Hahm, K.4    Merkenschlager, M.5    Fisher, A.G.6
  • 17
    • 79954612436 scopus 로고    scopus 로고
    • The Ikaros gene family: Transcriptional regulators of hematopoiesis and immunity
    • John LB, Ward AC. The Ikaros gene family: transcriptional regulators of hematopoiesis and immunity. Mol Immunol 2011; 48: 1272-8.
    • (2011) Mol Immunol , vol.48 , pp. 1272-1278
    • John, L.B.1    Ward, A.C.2
  • 18
    • 0029831978 scopus 로고    scopus 로고
    • Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development
    • Sun L, Liu A, Georgopoulos K. Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development. EMBO J 1996; 15: 5358-69.
    • (1996) EMBO J , vol.15 , pp. 5358-5369
    • Sun, L.1    Liu, A.2    Georgopoulos, K.3
  • 19
    • 34047251670 scopus 로고    scopus 로고
    • Human Ikaros function in activated T cells is regulated by coordinated expression of its largest isoforms
    • Ronni T, Payne KJ, Ho S, Bradley MN, Dorsam G, Dovat S. Human Ikaros function in activated T cells is regulated by coordinated expression of its largest isoforms. J Biol Chem 2007; 282: 2538-47.
    • (2007) J Biol Chem , vol.282 , pp. 2538-2547
    • Ronni, T.1    Payne, K.J.2    Ho, S.3    Bradley, M.N.4    Dorsam, G.5    Dovat, S.6
  • 20
    • 0038106526 scopus 로고    scopus 로고
    • Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor
    • Papathanasiou P, Perkins AC, Cobb BS, et al. Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor. Immunity 2003; 19: 131-44.
    • (2003) Immunity , vol.19 , pp. 131-144
    • Papathanasiou, P.1    Perkins, A.C.2    Cobb, B.S.3
  • 21
    • 84856909174 scopus 로고    scopus 로고
    • Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene
    • Goldman FD, Gurel Z, Al-Zubeidi D, et al. Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene. Pediatr Blood Cancer 2012; 58: 591-7.
    • (2012) Pediatr Blood Cancer , vol.58 , pp. 591-597
    • Goldman, F.D.1    Gurel, Z.2    Al-Zubeidi, D.3
  • 22
    • 84860359332 scopus 로고    scopus 로고
    • Agammaglobulinemia and absent B lineage cells in a patient lacking the p85δ subunit of PI3K
    • Conley ME, Dobbs AK, Quintana AM, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85δ subunit of PI3K. J Exp Med 2012; 209: 463-70.
    • (2012) J Exp Med , vol.209 , pp. 463-470
    • Conley, M.E.1    Dobbs, A.K.2    Quintana, A.M.3
  • 23
    • 33846200858 scopus 로고    scopus 로고
    • Evidence for preferential Ig gene usage and differential TdT and exonuclease activities in human na.ve and memory B cells
    • Tian C, Luskin GK, Dischert KM, Higginbotham JN, Shepherd BE, Crowe JE Jr. Evidence for preferential Ig gene usage and differential TdT and exonuclease activities in human na.ve and memory B cells. Mol Immunol 2007; 44: 2173-83.
    • (2007) Mol Immunol , vol.44 , pp. 2173-2183
    • Tian, C.1    Luskin, G.K.2    Dischert, K.M.3    Higginbotham, J.N.4    Shepherd, B.E.5    Crowe, J.E.6
  • 24
    • 84894095710 scopus 로고    scopus 로고
    • GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity
    • Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 2014; 123: 809-21.
    • (2014) Blood , vol.123 , pp. 809-821
    • Spinner, M.A.1    Sanchez, L.A.2    Hsu, A.P.3
  • 25
    • 84907909075 scopus 로고    scopus 로고
    • Immunology: Autoimmunity by haploinsufficiency
    • Rieux-Laucat F, Casanova JL. Immunology: autoimmunity by haploinsufficiency. Science 2014; 345: 1560-1.
    • (2014) Science , vol.345 , pp. 1560-1561
    • Rieux-Laucat, F.1    Casanova, J.L.2
  • 26
    • 84907909000 scopus 로고    scopus 로고
    • Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
    • Kuehn HS, Ouyang W, Lo B, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 2014; 345: 1623-7.
    • (2014) Science , vol.345 , pp. 1623-1627
    • Kuehn, H.S.1    Ouyang, W.2    Lo, B.3
  • 27
    • 84878013555 scopus 로고    scopus 로고
    • Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
    • Bolze A, Mahlaoui N, Byun M, et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 2013; 340: 976-8.
    • (2013) Science , vol.340 , pp. 976-978
    • Bolze, A.1    Mahlaoui, N.2    Byun, M.3
  • 28
    • 84887418439 scopus 로고    scopus 로고
    • A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells
    • Boisson B, Wang YD, Bosompem A, et al. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest 2013; 123: 4781-5.
    • (2013) J Clin Invest , vol.123 , pp. 4781-4785
    • Boisson, B.1    Wang, Y.D.2    Bosompem, A.3
  • 29
    • 84901268325 scopus 로고    scopus 로고
    • Ikaros imposes a barrier to CD8+ T cell differentiation by restricting autocrine IL-2 production
    • O'Brien S, Thomas RM, Wertheim GB, Zhang F, Shen H, Wells AD. Ikaros imposes a barrier to CD8+ T cell differentiation by restricting autocrine IL-2 production. J Immunol 2014; 192: 5118-29.
    • (2014) J Immunol , vol.192 , pp. 5118-5129
    • O'Brien, S.1    Thomas, R.M.2    Wertheim, G.B.3    Zhang, F.4    Shen, H.5    Wells, A.D.6
  • 30
    • 33746286879 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: Report on a United States registry of 201 patients
    • Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006; 85: 193-202.
    • (2006) Medicine (Baltimore) , vol.85 , pp. 193-202
    • Winkelstein, J.A.1    Marino, M.C.2    Lederman, H.M.3
  • 31
    • 0028001362 scopus 로고
    • The Ikaros gene is required for the development of all lymphoid lineages
    • Georgopoulos K, Bigby M, Wang JH, et al. The Ikaros gene is required for the development of all lymphoid lineages. Cell 1994; 79: 143-56.
    • (1994) Cell , vol.79 , pp. 143-156
    • Georgopoulos, K.1    Bigby, M.2    Wang, J.H.3
  • 32
    • 0030498975 scopus 로고    scopus 로고
    • Selective defects in the development of the fetal and adult lymphoid system in mice with an Ikaros null mutation
    • Wang JH, Nichogiannopoulou A, Wu L, et al. Selective defects in the development of the fetal and adult lymphoid system in mice with an Ikaros null mutation. Immunity 1996; 5: 537-49.
    • (1996) Immunity , vol.5 , pp. 537-549
    • Wang, J.H.1    Nichogiannopoulou, A.2    Wu, L.3
  • 34
    • 0028866897 scopus 로고
    • A dominant mutation in the Ikaros gene leads to rapid development of leukemia and lymphoma
    • Winandy S, Wu P, Georgopoulos K. A dominant mutation in the Ikaros gene leads to rapid development of leukemia and lymphoma. Cell 1995; 83: 289-99.
    • (1995) Cell , vol.83 , pp. 289-299
    • Winandy, S.1    Wu, P.2    Georgopoulos, K.3
  • 35
    • 0033582324 scopus 로고    scopus 로고
    • Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia
    • Sun L, Heerema N, Crotty L, et al. Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 1999; 96: 680-5.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 680-685
    • Sun, L.1    Heerema, N.2    Crotty, L.3
  • 36
    • 58749109707 scopus 로고    scopus 로고
    • Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia
    • Mullighan CG, Su X, Zhang J, et al. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med 2009; 360: 470-80.
    • (2009) N Engl J Med , vol.360 , pp. 470-480
    • Mullighan, C.G.1    Su, X.2    Zhang, J.3
  • 37
    • 84864368299 scopus 로고    scopus 로고
    • IKAROS deletions dictate a unique gene expression signature in patients with adult B-cell acute lymphoblastic leukemia
    • Iacobucci I, Iraci N, Messina M, et al. IKAROS deletions dictate a unique gene expression signature in patients with adult B-cell acute lymphoblastic leukemia. PLoS One 2012; 7(7): e40934.
    • (2012) PLoS One , vol.7 , Issue.7
    • Iacobucci, I.1    Iraci, N.2    Messina, M.3
  • 38
  • 39
    • 69349101565 scopus 로고    scopus 로고
    • Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
    • Papaemmanuil E, Hosking FJ, Vijayakrishnan J, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 2009; 41: 1006-10.
    • (2009) Nat Genet , vol.41 , pp. 1006-1010
    • Papaemmanuil, E.1    Hosking, F.J.2    Vijayakrishnan, J.3
  • 40
    • 0038677916 scopus 로고    scopus 로고
    • Overexpression of dominant-negative Ikaros 6 protein is restricted to a subset of B common adult acute lymphoblastic leukemias that express high levels of the CD34 antigen
    • Tonnelle C, Imbert MC, Sainty D, Granjeaud S, N'Guyen C, Chabannon C. Overexpression of dominant-negative Ikaros 6 protein is restricted to a subset of B common adult acute lymphoblastic leukemias that express high levels of the CD34 antigen. Hematol J 2003; 4: 104-9.
    • (2003) Hematol J , vol.4 , pp. 104-109
    • Tonnelle, C.1    Imbert, M.C.2    Sainty, D.3    Granjeaud, S.4    N'Guyen, C.5    Chabannon, C.6
  • 41
    • 0030045394 scopus 로고    scopus 로고
    • B cells are generated throughout life in humans
    • Nu.ez C, Nishimoto N, Gartland GL, et al. B cells are generated throughout life in humans. J Immunol 1996; 156: 866-72.
    • (1996) J Immunol , vol.156 , pp. 866-872
    • Nuez, C.1    Nishimoto, N.2    Gartland, G.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.