메뉴 건너뛰기




Volumn 11, Issue 6, 1999, Pages 528-532

Recent progress in the diagnosis and treatment of patients with defects in early B-cell development

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN;

EID: 0032749742     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199912000-00010     Document Type: Article
Times cited : (31)

References (49)
  • 1
    • 0027399081 scopus 로고
    • Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
    • Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al.: Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993, 72:279-290.
    • (1993) Cell , vol.72 , pp. 279-290
    • Tsukada, S.1    Saffran, D.C.2    Rawlings, D.J.3    Parolini, O.4    Allen, R.C.5    Klisak, I.6
  • 2
    • 0027441332 scopus 로고
    • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
    • Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al.: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993, 361:226-233.
    • (1993) Nature , vol.361 , pp. 226-233
    • Vetrie, D.1    Vorechovsky, I.2    Sideras, P.3    Holland, J.4    Davies, A.5    Flinter, F.6
  • 4
    • 0027394391 scopus 로고
    • The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
    • Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, et al.: The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993, 72:291-300.
    • (1993) Cell , vol.72 , pp. 291-300
    • Aruffo, A.1    Farrington, M.2    Hollenbaugh, D.3    Li, X.4    Milatovich, A.5    Nonoyama, S.6
  • 6
    • 0027403374 scopus 로고
    • Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al.: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993, 73:147-157.
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1    Yi, H.2    Rosenblatt, H.M.3    Filipovich, A.H.4    Adelstein, S.5    Modi, W.S.6
  • 7
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 78:635-644.
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, J.M.J.1    Ochs, H.D.2    Francke, U.3
  • 8
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to Pl-3 kinase
    • Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al.: A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science 1995, 268:1749-1753.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3    Rotman, G.4    Ziv, Y.5    Vanagaite, L.6
  • 9
    • 17344372694 scopus 로고    scopus 로고
    • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
    • Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, et al.: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1998, 20:129-135. Along with Sayos et al. [10•] and Nichols et al. [11•], these investigators showed that the mutations in SH2D1A/SAP/DSHP are responsible for X-linked lymphoproliferative disease.
    • (1998) Nat Genet , vol.20 , pp. 129-135
    • Coffey, A.J.1    Brooksbank, R.A.2    Brandau, O.3    Oohashi, T.4    Howell, G.R.5    Bye, J.M.6
  • 10
    • 0032190081 scopus 로고    scopus 로고
    • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
    • Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, et al.: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998, 395:462-469. Along with Coffey et al. [9•] and Nichols et al. [11•], these investigators showed that the mutations in SH2D1A/SAP/DSHP are responsible for X-linked lymphoproliferative disease.
    • (1998) Nature , vol.395 , pp. 462-469
    • Sayos, J.1    Wu, C.2    Morra, M.3    Wang, N.4    Zhang, X.5    Allen, D.6
  • 11
    • 13144278345 scopus 로고    scopus 로고
    • Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
    • Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, et al.: Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A 1998, 95:13765-13770. Along with Coffey et al. [9•] and Sayos et al. [10•], these investigators showed that the mutations in SH2D1A/SAP/DSHP are responsible for X-linked lymphoproliferative disease.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 13765-13770
    • Nichols, K.E.1    Harkin, D.P.2    Levitz, S.3    Krainer, M.4    Kolquist, K.A.5    Genovese, C.6
  • 12
    • 0009538774 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia
    • in press
    • Conley ME, Rohrer J, Minegishi Y: X-linked agammaglobulinemia. Clin Rev Allergy Immunol 1999, 17:in press. This updated review summarizes the molecular genetics and clinical aspects of XLA.
    • (1999) Clin Rev Allergy Immunol , vol.17
    • Conley, M.E.1    Rohrer, J.2    Minegishi, Y.3
  • 13
    • 0029146219 scopus 로고
    • Molecular and cellular aspects of X-linked agammaglobulinemia
    • Sideras P, Smith CI: Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 1995, 59:135-223.
    • (1995) Adv Immunol , vol.59 , pp. 135-223
    • Sideras, P.1    Smith, C.I.2
  • 14
    • 0032146708 scopus 로고    scopus 로고
    • Genetic basis of abnormal B cell development
    • Conley ME, Cooper MD: Genetic basis of abnormal B cell development. Curr Opin Immunol 1998, 10:399-406.
    • (1998) Curr Opin Immunol , vol.10 , pp. 399-406
    • Conley, M.E.1    Cooper, M.D.2
  • 15
    • 0033013019 scopus 로고    scopus 로고
    • Bruton's tyrosine kinase controls a sustained calcium signal essential for B lineage development and function
    • Rawlings DJ: Bruton's tyrosine kinase controls a sustained calcium signal essential for B lineage development and function. Clin Immunol 1999, 91:243-253. This is an excellent review of the biochemical function of Btk.
    • (1999) Clin Immunol , vol.91 , pp. 243-253
    • Rawlings, D.J.1
  • 16
    • 0028060484 scopus 로고
    • The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia
    • Rohrer J, Parolini O, Belmont JW, Conley ME: The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics 1994, 40:319-324.
    • (1994) Immunogenetics , vol.40 , pp. 319-324
    • Rohrer, J.1    Parolini, O.2    Belmont, J.W.3    Conley, M.E.4
  • 17
    • 0028592706 scopus 로고
    • Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia
    • Ohta Y, Haire RN, Litman RT, Fu SM, Nelson RP, Kratz J, et al.: Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Proc Natl Acad Sci USA 1994, 91:9062-9066.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 9062-9066
    • Ohta, Y.1    Haire, R.N.2    Litman, R.T.3    Fu, S.M.4    Nelson, R.P.5    Kratz, J.6
  • 18
    • 0027988170 scopus 로고
    • Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci
    • Sideras P, Muller S, Shiels H, Jin H, Khan WN, Nilsson L, et al.: Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. J Immunol 1994, 153:5607-5617.
    • (1994) J Immunol , vol.153 , pp. 5607-5617
    • Sideras, P.1    Muller, S.2    Shiels, H.3    Jin, H.4    Khan, W.N.5    Nilsson, L.6
  • 19
    • 0028137136 scopus 로고
    • Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
    • Conley ME, Fitch HM, Cleveland JL, Parolini O, Rohrer J: Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum Mol Genet 1994, 3:1751-1756.
    • (1994) Hum Mol Genet , vol.3 , pp. 1751-1756
    • Conley, M.E.1    Fitch, H.M.2    Cleveland, J.L.3    Parolini, O.4    Rohrer, J.5
  • 20
    • 0031980516 scopus 로고    scopus 로고
    • Mutations in Btk in patients with presumed X-linked agammaglobulinemia
    • Conley ME, Mathias D, Treadway J, Minegishi Y, Rohrer J: Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 1998, 62:1034-1043. This single-center study examined 101 families in whom the affected boy was presumed to have XLA. The frequency of new mutations and the source of mutations are defined. These data provide a useful resource for genetic counseling.
    • (1998) Am J Hum Genet , vol.62 , pp. 1034-1043
    • Conley, M.E.1    Mathias, D.2    Treadway, J.3    Minegishi, Y.4    Rohrer, J.5
  • 21
    • 0031974987 scopus 로고    scopus 로고
    • Transcriptional regulatory elements within the first intron of Bruton's tyrosine kinase
    • Rohrer J, Conley ME: Transcriptional regulatory elements within the first intron of Bruton's tyrosine kinase. Blood 1998, 91:214-221.
    • (1998) Blood , vol.91 , pp. 214-221
    • Rohrer, J.1    Conley, M.E.2
  • 23
    • 0032911903 scopus 로고    scopus 로고
    • Unusual mutations in Btk: An insertion, a duplication, an inversion and four large deletions
    • Rohrer J, Minegishi Y, Richter D, Eguiguren J, Conley ME: Unusual mutations in Btk: an insertion, a duplication, an inversion and four large deletions. Clin Immunol 1999, 90:28-37.
    • (1999) Clin Immunol , vol.90 , pp. 28-37
    • Rohrer, J.1    Minegishi, Y.2    Richter, D.3    Eguiguren, J.4    Conley, M.E.5
  • 24
    • 0029658036 scopus 로고    scopus 로고
    • A novel mutation (Cys→Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male
    • Kornfeld SJ, Haire RN, Strong SJ, Tang H, Sung SS, Fu SM, et al.: A novel mutation (Cys→Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Mol Med 1996, 2:619-623.
    • (1996) Mol Med , vol.2 , pp. 619-623
    • Kornfeld, S.J.1    Haire, R.N.2    Strong, S.J.3    Tang, H.4    Sung, S.S.5    Fu, S.M.6
  • 26
    • 0028359598 scopus 로고
    • A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia
    • Saffran DC, Parolini O, Fitch HM, Rawlings DJ, Afar DE, Witte ON, et al.: A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med 1994, 330:1488-1491.
    • (1994) N Engl J Med , vol.330 , pp. 1488-1491
    • Saffran, D.C.1    Parolini, O.2    Fitch, H.M.3    Rawlings, D.J.4    Afar, D.E.5    Witte, O.N.6
  • 27
    • 0031911730 scopus 로고    scopus 로고
    • Bruton's tyrosine kinase in B lymphoid cell lines from X-linked agammaglobulinemia (XLA): The use of protein analysis as a diagnostic indicator of XLA
    • Gasper HB, Lester T, Levinsky RJ, Kinnon C: Bruton's tyrosine kinase in B lymphoid cell lines from X-linked agammaglobulinemia (XLA): the use of protein analysis as a diagnostic indicator of XLA. Clin Exp Immunol 1998, 111:334-338.
    • (1998) Clin Exp Immunol , vol.111 , pp. 334-338
    • Gasper, H.B.1    Lester, T.2    Levinsky, R.J.3    Kinnon, C.4
  • 28
    • 19244372556 scopus 로고    scopus 로고
    • Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection
    • Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, et al.: Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998, 91:595-602. The authors used a highly specific monoclonal antibody and fluorescence-activated cell sorter analysis to demonstrate that the majority of the mutations in Btk result in the absence of Btk protein, probably caused by the impairment of stability of the protein.
    • (1998) Blood , vol.91 , pp. 595-602
    • Futatani, T.1    Miyawaki, T.2    Tsukada, S.3    Hashimoto, S.4    Kunikata, T.5    Arai, S.6
  • 30
  • 34
    • 0031740732 scopus 로고    scopus 로고
    • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
    • Puel A, Ziegler SF, Buckley RH, Leonard WJ: Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet 1998, 20:394-397. The authors identified mutations in interleukin-7 receptor in two patients with T(-)B(+)NK(+) severe combined immunodeficiency. This demonstrates that interleukin-7 signaling in not essential for human B-cell development.
    • (1998) Nat Genet , vol.20 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3    Leonard, W.J.4
  • 35
    • 0026587870 scopus 로고
    • Females with a disorder phenotypically identical to X-linked agammaglobulinemia
    • Conley ME, Sweinberg SK: Females with a disorder phenotypically identical to X-linked agammaglobulinemia. J Clin Immunol 1992, 12:139-143.
    • (1992) J Clin Immunol , vol.12 , pp. 139-143
    • Conley, M.E.1    Sweinberg, S.K.2
  • 37
    • 0030006070 scopus 로고    scopus 로고
    • Clonal selection and learning in the antibody system
    • Rajewsky K: Clonal selection and learning in the antibody system. Nature 1996, 381:751-758.
    • (1996) Nature , vol.381 , pp. 751-758
    • Rajewsky, K.1
  • 38
    • 0031594211 scopus 로고    scopus 로고
    • Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia
    • Minegishi Y, Coustan-Smith E, Wang Y-H, Cooper MD, Campana D, Conley ME: Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 1998, 187:71-77. This study described a boy with a condition phenotypically identical to XLA who had defects in the gene for λ5/14.1. This is the second example of an autosomal recessive form of agammaglobulinemia.
    • (1998) J Exp Med , vol.187 , pp. 71-77
    • Minegishi, Y.1    Coustan-Smith, E.2    Wang, Y.-H.3    Cooper, M.D.4    Campana, D.5    Conley, M.E.6
  • 40
    • 0033511446 scopus 로고    scopus 로고
    • Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: A retrospective survey of 31 patients
    • Quartier P, Debra M, De Blic J, de Sauverzac R, Sayegh N, Jabado N, et al.: Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. J Pediatr 1999, 134:589-596.
    • (1999) J Pediatr , vol.134 , pp. 589-596
    • Quartier, P.1    Debra, M.2    De Blic, J.3    De Sauverzac, R.4    Sayegh, N.5    Jabado, N.6
  • 41
    • 0028222932 scopus 로고
    • Antigen-specific human antibodies from mice comprising four distinct genetic modifications
    • Lonberg N, Tayler LD, Harding FA, Trounstine M, Higgins KM, Schramm SR, et al.: Antigen-specific human antibodies from mice comprising four distinct genetic modifications. Nature 1994, 368:856-859.
    • (1994) Nature , vol.368 , pp. 856-859
    • Lonberg, N.1    Tayler, L.D.2    Harding, F.A.3    Trounstine, M.4    Higgins, K.M.5    Schramm, S.R.6
  • 42
    • 0031039315 scopus 로고    scopus 로고
    • Functional transplant of megabase human immunoglobulin loci recapitulates human antibody response in mice
    • Mendez MJ, Green LL, Corvalan JR, Jia XC, Maynard-Currie CE, Yang XD, et al.: Functional transplant of megabase human immunoglobulin loci recapitulates human antibody response in mice. Nat Genet 1997, 15:146-156.
    • (1997) Nat Genet , vol.15 , pp. 146-156
    • Mendez, M.J.1    Green, L.L.2    Corvalan, J.R.3    Jia, X.C.4    Maynard-Currie, C.E.5    Yang, X.D.6
  • 43
    • 0031890632 scopus 로고    scopus 로고
    • Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer
    • Bunting KD, Sangster MY, Ihle JN, Sorrentino BP: Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer. Nat Med 1998, 4:58-64. The authors demonstrated that retroviral-mediated JAK3 gene transfer can reconstitute normal immune system in JAK3-deficient mice, which is one of the convincing successes of gene therapy models for congenital genetic disorders.
    • (1998) Nat Med , vol.4 , pp. 58-64
    • Bunting, K.D.1    Sangster, M.Y.2    Ihle, J.N.3    Sorrentino, B.P.4
  • 45
    • 0031787859 scopus 로고    scopus 로고
    • Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice
    • Brown MP, Topham DJ, Sangster MY, Zhao J, Flynn KJ, Surman SL, et al.: Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. Nat Med 1998, 4:1253-1260. This study showed that constitutive expression of CD40 ligand induced by a retroviral vector can improve immune function in CD40 ligand-deficient mice. However, more than 60% of treated mice developed T-cell lymphoproliferative disorders, suggesting current retroviral gene therapy is not adequate for genes that require tight regulation of expression.
    • (1998) Nat Med , vol.4 , pp. 1253-1260
    • Brown, M.P.1    Topham, D.J.2    Sangster, M.Y.3    Zhao, J.4    Flynn, K.J.5    Surman, S.L.6
  • 47
    • 0030758466 scopus 로고    scopus 로고
    • The X-linked immunodeficiency defect in the mouse is corrected by expression of human Bruton's tyrosine kinase from a yeast artificial chromosome transgene
    • Maas A, Dingjan GM, Savelkoul HF, Kinnon C, Grosveld F, Hendriks RW: The X-linked immunodeficiency defect in the mouse is corrected by expression of human Bruton's tyrosine kinase from a yeast artificial chromosome transgene. Eur J Immunol 1997, 27:2180-2187.
    • (1997) Eur J Immunol , vol.27 , pp. 2180-2187
    • Maas, A.1    Dingjan, G.M.2    Savelkoul, H.F.3    Kinnon, C.4    Grosveld, F.5    Hendriks, R.W.6
  • 48
    • 0031025342 scopus 로고    scopus 로고
    • Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton's tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region
    • Drabek D, Raguz S, De Wit TP, Dingjan GM, Savelkoul HF, Grosveld F, et al.: Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton's tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region. Proc Natl Acad Sci U S A 1997, 94:610-615.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 610-615
    • Drabek, D.1    Raguz, S.2    De Wit, T.P.3    Dingjan, G.M.4    Savelkoul, H.F.5    Grosveld, F.6
  • 49
    • 0033571370 scopus 로고    scopus 로고
    • Correction of X-linked immunodeficient mice by competitive reconstitution with limiting numbers of normal bone marrow cells
    • in press
    • Rohrer J, Conley ME: Correction of X-linked immunodeficient mice by competitive reconstitution with limiting numbers of normal bone marrow cells. Blood 1999, in press. This paper shows that limited numbers of normal cells are sufficient for the correction of humoral immunity in Btk-deficient mice using competitive bone marrow transplantation.
    • (1999) Blood
    • Rohrer, J.1    Conley, M.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.