메뉴 건너뛰기




Volumn 10, Issue 4, 1998, Pages 399-406

Genetic basis of abnormal B cell development

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; IMMUNOGLOBULIN LIGHT CHAIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 3; PROTEIN TYROSINE KINASE;

EID: 0032146708     PISSN: 09527915     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0952-7915(98)80112-X     Document Type: Article
Times cited : (81)

References (76)
  • 1
    • 0030804030 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: Report of a WHO scientific group
    • of special interest. This is a current and comprehensive classification of human immunodeficiency diseases.
    • of special interest Rosen FS, Wedgwood RJ, Eibl MM, Fisher A, Aiuti F, Notarangelo L, Kishimoto T, Resnick IB, Hammarstrom L, Seger R, et al. Primary immunodeficiency diseases: report of a WHO scientific group. Clin Exp Immunol. 109:1997;S1-S28 This is a current and comprehensive classification of human immunodeficiency diseases.
    • (1997) Clin Exp Immunol , vol.109
    • Rosen, F.S.1    Wedgwood, R.J.2    Eibl, M.M.3    Fisher, A.4    Aiuti, F.5    Notarangelo, L.6    Kishimoto, T.7    Resnick, I.B.8    Hammarstrom, L.9    Seger, R.10
  • 2
    • 8544233486 scopus 로고    scopus 로고
    • Primary immunodeficiency syndrome in Spain: First report of the national Registry in Children and Adults
    • Flori NM, Llambi JM, Boren TE, Borja SR, Casariego GF. Primary immunodeficiency syndrome in Spain: first report of the national Registry in Children and Adults. J Clin Immunol. 17:1997;333-339.
    • (1997) J Clin Immunol , vol.17 , pp. 333-339
    • Flori, N.M.1    Llambi, J.M.2    Boren, T.E.3    Borja, S.R.4    Casariego, G.F.5
  • 5
    • 0031006633 scopus 로고    scopus 로고
    • Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID)
    • Johnson ML, Keeton LG, Zhu ZB, Volanakis JE, Cooper MD, Schroeder HW Jr. Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID). Clin Exp Immunol. 108:1997;477-483.
    • (1997) Clin Exp Immunol , vol.108 , pp. 477-483
    • Johnson, M.L.1    Keeton, L.G.2    Zhu, Z.B.3    Volanakis, J.E.4    Cooper, M.D.5    Schroeder H.W., Jr.6
  • 7
    • 0030971165 scopus 로고    scopus 로고
    • Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells
    • of special interest. This reports that immunization of CVID patients with the neoantigen, keyhole-limpet hemocyanin, failed to elicit the normal increase in responsive T cells, thereby supporting earlier evidence of defective T cell antigen responsiveness. Defective IgM responses to the T-independent antigen, dinitrophenol-Ficoll in the affected individuals do, however, give further evidence of the complicated phenotype of CVID patients.
    • of special interest Kondratenko I, Amlot PL, Webster ADB, Farrant J. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells. Clin Exp Immunol. 108:1997;9-13 This reports that immunization of CVID patients with the neoantigen, keyhole-limpet hemocyanin, failed to elicit the normal increase in responsive T cells, thereby supporting earlier evidence of defective T cell antigen responsiveness. Defective IgM responses to the T-independent antigen, dinitrophenol-Ficoll in the affected individuals do, however, give further evidence of the complicated phenotype of CVID patients.
    • (1997) Clin Exp Immunol , vol.108 , pp. 9-13
    • Kondratenko, I.1    Amlot, P.L.2    Webster, A.D.B.3    Farrant, J.4
  • 8
    • 0030942050 scopus 로고    scopus 로고
    • Antigen presentation by common variable immunodeficiency (CVID) B cells and monocytes is unimpaired
    • of special interest. These investigators, whose previous studies point to a defect in T cell responses in CVID, exclude identifiable defects in the antigen-presenting capability of CVID B cells and monocytes.
    • of special interest Thon V, Eggenbauer H, Wolf HM, Fischer MB, Litzman J, Lokaj J, Eibl MM. Antigen presentation by common variable immunodeficiency (CVID) B cells and monocytes is unimpaired. Clin Exp Immunol. 108:1997;1-8 These investigators, whose previous studies point to a defect in T cell responses in CVID, exclude identifiable defects in the antigen-presenting capability of CVID B cells and monocytes.
    • (1997) Clin Exp Immunol , vol.108 , pp. 1-8
    • Thon, V.1    Eggenbauer, H.2    Wolf, H.M.3    Fischer, M.B.4    Litzman, J.5    Lokaj, J.6    Eibl, M.M.7
  • 10
    • 0032519450 scopus 로고    scopus 로고
    • Antigen-primed T cells from B cell-deficient JHD mice fail to provide B cell help
    • Macaulay AE, DeKruyff RH, Umetsu DT. Antigen-primed T cells from B cell-deficient JHD mice fail to provide B cell help. J Immunol. 160:1998;1694-1700.
    • (1998) J Immunol , vol.160 , pp. 1694-1700
    • MacAulay, A.E.1    Dekruyff, R.H.2    Umetsu, D.T.3
  • 11
    • 0032539562 scopus 로고    scopus 로고
    • A role for B cells in the development of T cell helper function in a malaria infection in mice
    • Langhorne J, Cross C, Seixas E, Li C, von der Weid T. A role for B cells in the development of T cell helper function in a malaria infection in mice. Proc Natl Acad Sci USA. 95:1998;1730-1734.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1730-1734
    • Langhorne, J.1    Cross, C.2    Seixas, E.3    Li, C.4    Von Der Weid, T.5
  • 12
    • 0032478290 scopus 로고    scopus 로고
    • CD81 on B cells promotes interleukin 4 secretion and antibody production during T helper type 2 immune responses
    • Maecker HT, Do M-S, Levy S. CD81 on B cells promotes interleukin 4 secretion and antibody production during T helper type 2 immune responses. Proc Natl Acad Sci USA. 95:1998;2458-2462.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 2458-2462
    • Maecker, H.T.1    Do M-S2    Levy, S.3
  • 14
    • 14444288273 scopus 로고    scopus 로고
    • Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region
    • of special interest. IgAD has been associated with the North European haplotype, HLA-A1, -B8, -DR3, with ~13% of humozygous individuals having IgAD. In contrast, normal IgA levels were found in all 43 HLA-DR3-homozygous Sardinians who had insulin-dependent diabetes mellitus or coeliac disease. As the Sardinian HLA-DR3 haplotype diverges from the common Northern European HLA-DR3 haplotype telomeric to the HLA-DR region, these data mitigate against the hypothesis that a class II region allele confers susceptibility to IgAD.
    • of special interest Cucca F, Zhu Z-B, Khanna A, Cossu F, Congia M, Badiali M, Lampis R, Frau F, de Virgiliis S, Cao A, et al. Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region. Clin Exp Immunol. 111:1998;76-80 IgAD has been associated with the North European haplotype, HLA-A1, -B8, -DR3, with ~13% of humozygous individuals having IgAD. In contrast, normal IgA levels were found in all 43 HLA-DR3-homozygous Sardinians who had insulin-dependent diabetes mellitus or coeliac disease. As the Sardinian HLA-DR3 haplotype diverges from the common Northern European HLA-DR3 haplotype telomeric to the HLA-DR region, these data mitigate against the hypothesis that a class II region allele confers susceptibility to IgAD.
    • (1998) Clin Exp Immunol , vol.111 , pp. 76-80
    • Cucca, F.1    Zhu Z-B2    Khanna, A.3    Cossu, F.4    Congia, M.5    Badiali, M.6    Lampis, R.7    Frau, F.8    De Virgiliis, S.9    Cao, A.10
  • 15
    • 7144227286 scopus 로고    scopus 로고
    • Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes
    • of special interest. Earlier work suggested that a susceptibility gene or genes exist for both CVID and IgAD within the MHC class III region in linkage disequilibrium with class I and/or class II alleles. In this study of 73 members of one large family, all immunoglobulin-deficient members shared at minimum a common fragment of the Northern European HLA-A1, -B8, -DR3 haplotype. A susceptibility locus was thus identified for IgAD/CVID which has 21 known genes, including the genes for TNF-α, lymphotoxin (LT)-α and LT-β.
    • of special interest Schroeder HW Jr, Zhu Z-B, March RE, Campbell RD, Berney SM, Nedospasov SA, Turetskaya RL, Atkinson TP, Go RCP, Cooper MD, Volanakis JE. Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes. Mol Med. 4:1998;72-86 Earlier work suggested that a susceptibility gene or genes exist for both CVID and IgAD within the MHC class III region in linkage disequilibrium with class I and/or class II alleles. In this study of 73 members of one large family, all immunoglobulin-deficient members shared at minimum a common fragment of the Northern European HLA-A1, -B8, -DR3 haplotype. A susceptibility locus was thus identified for IgAD/CVID which has 21 known genes, including the genes for TNF-α, lymphotoxin (LT)-α and LT-β.
    • (1998) Mol Med , vol.4 , pp. 72-86
    • Schroeder H.W., Jr.1    Zhu Z-B2    March, R.E.3    Campbell, R.D.4    Berney, S.M.5    Nedospasov, S.A.6    Turetskaya, R.L.7    Atkinson, T.P.8    Go, R.C.P.9    Cooper, M.D.10    Volanakis, J.E.11
  • 16
    • 0031573549 scopus 로고    scopus 로고
    • TNF and lymphotoxin-α polymorphisms associated with common variable immunodeficiency: Role in the pathogenesis of granulomatous disease
    • Mullighan CG, Fanning GC, Chapel HM, Welsh KI. TNF and lymphotoxin-α polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease. J Immunol. 159:1997;6236-6241.
    • (1997) J Immunol , vol.159 , pp. 6236-6241
    • Mullighan, C.G.1    Fanning, G.C.2    Chapel, H.M.3    Welsh, K.I.4
  • 18
    • 0030691154 scopus 로고    scopus 로고
    • Evolving views of the major histocompatibility complex
    • Gruen JR, Weissman SM. Evolving views of the major histocompatibility complex. Blood. 90:1997;4252-4265.
    • (1997) Blood , vol.90 , pp. 4252-4265
    • Gruen, J.R.1    Weissman, S.M.2
  • 21
    • 0030725666 scopus 로고    scopus 로고
    • Structural analysis of human γ3 intervening regions and switch regions: Implication for the low frequency of switching in IgG3-deficient patients
    • Pan Q, Lindersson Y, Sieras P, Hammarström L. Structural analysis of human γ3 intervening regions and switch regions: implication for the low frequency of switching in IgG3-deficient patients. Eur J Immunol. 27:1997;2920-2926.
    • (1997) Eur J Immunol , vol.27 , pp. 2920-2926
    • Pan, Q.1    Lindersson, Y.2    Sieras, P.3    Hammarström, L.4
  • 23
    • 0030994044 scopus 로고    scopus 로고
    • The roles of γ1 heavy chain membrane expression and cytoplasmic tail in IgG1 responses
    • Kaisho T, Shwenk F, Rajewsky K. The roles of γ1 heavy chain membrane expression and cytoplasmic tail in IgG1 responses. Science. 276:1997;412-415.
    • (1997) Science , vol.276 , pp. 412-415
    • Kaisho, T.1    Shwenk, F.2    Rajewsky, K.3
  • 28
    • 0028183406 scopus 로고
    • X-linked agammaglobulinemia: New approaches to old questions based on the identification of the defective gene
    • Conley ME, Parolini O, Rohrer J, Campana D. X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene. Immunol Rev. 138:1994;5-21.
    • (1994) Immunol Rev , vol.138 , pp. 5-21
    • Conley, M.E.1    Parolini, O.2    Rohrer, J.3    Campana, D.4
  • 31
    • 0029792213 scopus 로고    scopus 로고
    • Inactivation of Btk by insertion of IacZ reveals defects in B cell development only past the pre-B cell stage
    • Hendriks RW, de Bruijn MFTR, Maas A, Dingjan GM, Karis A, Grosveld F. Inactivation of Btk by insertion of IacZ reveals defects in B cell development only past the pre-B cell stage. EMBO J. 15:1996;4862-4872.
    • (1996) EMBO J , vol.15 , pp. 4862-4872
    • Hendriks, R.W.1    De Bruijn, M.F.T.R.2    Maas, A.3    Dingjan, G.M.4    Karis, A.5    Grosveld, F.6
  • 32
    • 0031442340 scopus 로고    scopus 로고
    • Embryonic and adult expression patterns of the Tec tyrosine kinase gene suggest a role in megakaryocytopoiesis, blood vessel development, and melanogenesis
    • Kluppel M, Donoviel DB, Brunkow ME, Motro B, Bernstein A. Embryonic and adult expression patterns of the Tec tyrosine kinase gene suggest a role in megakaryocytopoiesis, blood vessel development, and melanogenesis. Cell Growth Differ. 8:1997;1249-1256.
    • (1997) Cell Growth Differ , vol.8 , pp. 1249-1256
    • Kluppel, M.1    Donoviel, D.B.2    Brunkow, M.E.3    Motro, B.4    Bernstein, A.5
  • 33
    • 0032521492 scopus 로고    scopus 로고
    • Efficient CD28 signalling leads to increases in the kinase activities of the TEC family tyrosine kinase EMT/ITK/TSK and the SRC family tyrosine kinase LCK
    • Gibson S, Truitt K, Lu Y, Lapushin R, Khan H, Imboden JB, Mills GB. Efficient CD28 signalling leads to increases in the kinase activities of the TEC family tyrosine kinase EMT/ITK/TSK and the SRC family tyrosine kinase LCK. Biochem J. 330:1998;1123-1128.
    • (1998) Biochem J , vol.330 , pp. 1123-1128
    • Gibson, S.1    Truitt, K.2    Lu, Y.3    Lapushin, R.4    Khan, H.5    Imboden, J.B.6    Mills, G.B.7
  • 34
    • 0031468126 scopus 로고    scopus 로고
    • Itk and Fyn make independent contributions to T cell activation
    • Liao XC, Littman DR, Weiss A. Itk and Fyn make independent contributions to T cell activation. J Exp Med. 186:1997;2069-2073.
    • (1997) J Exp Med , vol.186 , pp. 2069-2073
    • Liao, X.C.1    Littman, D.R.2    Weiss, A.3
  • 35
    • 0030697510 scopus 로고    scopus 로고
    • The Bmx tyrosine kinase induces activation of the Stat signaling pathway, which is specifically inhibited by protein kinase Cδ
    • Saharinen P, Ekman N, Sarvas K, Parker P, Alitalo K, Silvennoien O. The Bmx tyrosine kinase induces activation of the Stat signaling pathway, which is specifically inhibited by protein kinase Cδ Blood. 90:1997;4341-4353.
    • (1997) Blood , vol.90 , pp. 4341-4353
    • Saharinen, P.1    Ekman, N.2    Sarvas, K.3    Parker, P.4    Alitalo, K.5    Silvennoien, O.6
  • 36
    • 0030662106 scopus 로고    scopus 로고
    • Predominant expression of murine Bmx tyrosine kinase in the granulo-monocytic lineage
    • Weil D, Power MA, Smith SI, Li CL. Predominant expression of murine Bmx tyrosine kinase in the granulo-monocytic lineage. Blood. 90:1997;4332-4340.
    • (1997) Blood , vol.90 , pp. 4332-4340
    • Weil, D.1    Power, M.A.2    Smith, S.I.3    Li, C.L.4
  • 37
    • 0032006789 scopus 로고    scopus 로고
    • Expression and activation of the nonreceptor tyrosine kinase Tec in human B cells
    • Kitanaka A, Mano H, Conley ME, Campana D. Expression and activation of the nonreceptor tyrosine kinase Tec in human B cells. Blood. 91:1998;940-948.
    • (1998) Blood , vol.91 , pp. 940-948
    • Kitanaka, A.1    Mano, H.2    Conley, M.E.3    Campana, D.4
  • 38
    • 0030771737 scopus 로고    scopus 로고
    • Constitutive membrane association protentiates activation of Bruton tyrosine kinase
    • Li T, Rawlings DJ, Park H, Kato RM, Witte ON, Satterthwaite AB. Constitutive membrane association protentiates activation of Bruton tyrosine kinase. Oncogene. 15:1997;1375-1383.
    • (1997) Oncogene , vol.15 , pp. 1375-1383
    • Li, T.1    Rawlings, D.J.2    Park, H.3    Kato, R.M.4    Witte, O.N.5    Satterthwaite, A.B.6
  • 39
    • 0039710379 scopus 로고    scopus 로고
    • Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: Molecular explanations for X-linked agammaglobulinaemia
    • Hyvönen M, Saraste M. Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. EMBO J. 16:1997;3396-3404.
    • (1997) EMBO J , vol.16 , pp. 3396-3404
    • Hyvönen, M.1    Saraste, M.2
  • 40
    • 0030995811 scopus 로고    scopus 로고
    • Interactions between protein kinase C and pleckstrin homology domains. Inhibition by phosphatidylinositol 4,5-bisphosphate and phorbol 12-myristate 13-acetate
    • Yao L, Suzuki H, Ozawa K, Deng J, Lehel C, Fukamachi H, Anderson WB, Kawakami Y, Kawakami T. Interactions between protein kinase C and pleckstrin homology domains. Inhibition by phosphatidylinositol 4,5-bisphosphate and phorbol 12-myristate 13-acetate. J Biol Chem. 272:1997;13033-13039.
    • (1997) J Biol Chem , vol.272 , pp. 13033-13039
    • Yao, L.1    Suzuki, H.2    Ozawa, K.3    Deng, J.4    Lehel, C.5    Fukamachi, H.6    Anderson, W.B.7    Kawakami, Y.8    Kawakami, T.9
  • 41
    • 0029824848 scopus 로고    scopus 로고
    • Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity
    • Fukuda M, Kojima T, Kabayama H, Mikoshiba K. Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity. J Biol Chem. 271:1996;30303-30306.
    • (1996) J Biol Chem , vol.271 , pp. 30303-30306
    • Fukuda, M.1    Kojima, T.2    Kabayama, H.3    Mikoshiba, K.4
  • 43
    • 0028896344 scopus 로고
    • Activation of Tsk and Btk tyrosine kinases by G protein βγ subunits
    • Langhans-Rajasekaran IA, Wan Y, Huang X-Y. Activation of Tsk and Btk tyrosine kinases by G protein βγ subunits. Proc Natl Acad Sci USA. 92:1995;8601-8605.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 8601-8605
    • Langhans-Rajasekaran, I.A.1    Wan, Y.2    Huang X-Y3
  • 44
    • 1842299315 scopus 로고    scopus 로고
    • Direct simulation of Bruton's tyrosine kinase by Gq-protein α-subunit
    • Bence K, Ma W, Kozasa T, Huang X-Y. Direct simulation of Bruton's tyrosine kinase by Gq-protein α-subunit. Nature. 389:1997;296-299.
    • (1997) Nature , vol.389 , pp. 296-299
    • Bence, K.1    Ma, W.2    Kozasa, T.3    Huang X-Y4
  • 45
    • 0030822605 scopus 로고    scopus 로고
    • Phosphorylation of two regulatory tyrosine residues in the activation of Bruton's tyrosine kinase via alternative receptors
    • Wahl MI, Fluckiger A-C, Kato RM, Park H, Witte ON, Rawlings DJ. Phosphorylation of two regulatory tyrosine residues in the activation of Bruton's tyrosine kinase via alternative receptors. Proc Natl Acad Sci USA. 94:1997;11526-11533.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 11526-11533
    • Wahl, M.I.1    Fluckiger A-C2    Kato, R.M.3    Park, H.4    Witte, O.N.5    Rawlings, D.J.6
  • 46
    • 0031471231 scopus 로고    scopus 로고
    • Phosphatidylinositol 3-kinase-γ activates Bruton's tyrosine kinase in concert with Src family kinases
    • Li Z, Wahl MI, Eguinoa A, Stephens LR, Hawkins PT, Witte ON. Phosphatidylinositol 3-kinase-γ activates Bruton's tyrosine kinase in concert with Src family kinases. Proc Natl Acad Sci USA. 94:1997;13820-13825.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 13820-13825
    • Li, Z.1    Wahl, M.I.2    Eguinoa, A.3    Stephens, L.R.4    Hawkins, P.T.5    Witte, O.N.6
  • 47
    • 0030018304 scopus 로고    scopus 로고
    • A role for Bruton's tyrosine kinase in B cell antigen receptor-mediated activation of phospholipase C-γ2
    • Takata M, Kurosaki T. A role for Bruton's tyrosine kinase in B cell antigen receptor-mediated activation of phospholipase C-γ2. J Exp Med. 184:1996;31-40.
    • (1996) J Exp Med , vol.184 , pp. 31-40
    • Takata, M.1    Kurosaki, T.2
  • 48
    • 0032055476 scopus 로고    scopus 로고
    • + following B-cell receptor activation
    • of special interest. These authors evaluated a series of Epstein-Barr-virus-transformed cell lines from patients with null mutations in Bruton's tyrosine kinase (Btk) and found decreased extracellular calcium influx following cross-linking of surface IgM. As calcium is known to play a role in cell-cycle control and in the activation of several transcription factors, this finding suggests a mechanism by which mutations in Btk could affect B cell development at multiple stages of differentiation.
    • + following B-cell receptor activation. EMBO J. 17:1998;1973-1985 These authors evaluated a series of Epstein-Barr-virus-transformed cell lines from patients with null mutations in Bruton's tyrosine kinase (Btk) and found decreased extracellular calcium influx following cross-linking of surface IgM. As calcium is known to play a role in cell-cycle control and in the activation of several transcription factors, this finding suggests a mechanism by which mutations in Btk could affect B cell development at multiple stages of differentiation.
    • (1998) EMBO J , vol.17 , pp. 1973-1985
    • Fluckiger, A.C.1    Li, Z.2    Kato, R.M.3    Wahl, M.I.4    Ochs, H.D.5    Longnecker, R.6    Kinet, J.P.7    Witte, O.N.8    Scharenberg, A.M.9    Rawlings, D.J.10
  • 49
    • 0031038046 scopus 로고    scopus 로고
    • BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement
    • of special interest. These authors identified a protein that could be co-precipitated with Btk in the human B cell line RAMOS. They used tryptic digests of this protein and the GenBank dbEST data to clone the gene for the protein, 957 amino acids in length, that they called BAP-135 (Btk-associated protein of 135 kDa). This protein has several notable features including six copies of a repeat with 90-95 amino acids and two Src phosphorylation sites. When both proteins were over-expressed in a cell line, BAP-135 was phosphorylated if the Btk had an active kinase domain but not if the kinase domain was inactive.
    • of special interest Yaang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci USA. 94:1997;604-609 These authors identified a protein that could be co-precipitated with Btk in the human B cell line RAMOS. They used tryptic digests of this protein and the GenBank dbEST data to clone the gene for the protein, 957 amino acids in length, that they called BAP-135 (Btk-associated protein of 135 kDa). This protein has several notable features including six copies of a repeat with 90-95 amino acids and two Src phosphorylation sites. When both proteins were over-expressed in a cell line, BAP-135 was phosphorylated if the Btk had an active kinase domain but not if the kinase domain was inactive.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 604-609
    • Yaang, W.1    Desiderio, S.2
  • 50
    • 0030695247 scopus 로고    scopus 로고
    • Cloning of an Inr- And E-box-binding protein, TFII-I, that interacts physically and functionally with USF1
    • Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG. Cloning of an Inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. EMBO J. 16:1997;7091-7104.
    • (1997) EMBO J , vol.16 , pp. 7091-7104
    • Roy, A.L.1    Du, H.2    Gregor, P.D.3    Novina, C.D.4    Martinez, E.5    Roeder, R.G.6
  • 51
    • 0030855971 scopus 로고    scopus 로고
    • A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: Identity to TFII-I
    • of special interest. References [50] and [51] describe the cloning of a DNA-binding factor, TRII-I, that is identical to BAP-135, described in [49]. This protein functions synergistically with other transcription factors to organize and stabilize the initiation complex that controls transcription at a variety of sites including the c-fos promoter.
    • of special interest Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL, Gilman M. A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. Genes Dev. 11:1997;2482-2493 References [50] and [51] describe the cloning of a DNA-binding factor, TRII-I, that is identical to BAP-135, described in [49]. This protein functions synergistically with other transcription factors to organize and stabilize the initiation complex that controls transcription at a variety of sites including the c-fos promoter.
    • (1997) Genes Dev , vol.11 , pp. 2482-2493
    • Grueneberg, D.A.1    Henry, R.W.2    Brauer, A.3    Novina, C.D.4    Cheriyath, V.5    Roy, A.L.6    Gilman, M.7
  • 52
    • 0031025342 scopus 로고    scopus 로고
    • Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region
    • of special interest. The authors corrected the defect in Btk-deficient mice with a transgene expressing human Btk driven by an MHC class II regulatory element. The results indicate that tight regulation of Btk production is not required to improve B cell function. This observation bodes well for strategies using gene therapy to treat patients with X-linked agammaglobulinemia.
    • of special interest Drabek D, Raguz S, De Wit TPM, Dingjan GM, Savelkoul HFJ, Grosveld F, Hendriks RW. Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region. Proc Natl Acad Sci USA. 94:1997;610-615 The authors corrected the defect in Btk-deficient mice with a transgene expressing human Btk driven by an MHC class II regulatory element. The results indicate that tight regulation of Btk production is not required to improve B cell function. This observation bodes well for strategies using gene therapy to treat patients with X-linked agammaglobulinemia.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 610-615
    • Drabek, D.1    Raguz, S.2    De Wit, T.P.M.3    Dingjan, G.M.4    Savelkoul, H.F.J.5    Grosveld, F.6    Hendriks, R.W.7
  • 53
    • 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 trangene
    • Maas A, Dingjam GM, Savelkoul HFJ, 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 trangene. Eur J Immunol. 27:1997;2180-2187.
    • (1997) Eur J Immunol , vol.27 , pp. 2180-2187
    • Maas, A.1    Dingjam, G.M.2    Savelkoul, H.F.J.3    Kinnon, C.4    Grosveld, F.5    Hendriks, R.W.6
  • 54
    • 0030966052 scopus 로고    scopus 로고
    • Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains
    • Oeltjen JC, Malley TM, Muzny M, Miller W, Gibbs RA, Belmont JW. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 7:1997;315-329.
    • (1997) Genome Res , vol.7 , pp. 315-329
    • Oeltjen, J.C.1    Malley, T.M.2    Muzny, M.3    Miller, W.4    Gibbs, R.A.5    Belmont, J.W.6
  • 55
    • 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. 91:1998;214-221.
    • (1998) Blood , vol.91 , pp. 214-221
    • Rohrer, J.1    Conley, M.E.2
  • 58
    • 0031980516 scopus 로고    scopus 로고
    • Mutations in Btk in patients with presumed X-linked agammaglobulinemia
    • of special interest. The authors describe genetic studies on 101 unrelated families in which the affected male was presumed to have XLA. The studies indentified 83 different mutations in Bruton's tyrosine kinase (Btk) in 94 families. Of the remaining families, only one was likely to have mutations in Btk based on the absence of Btk protein in peripheral blood mononuclear cells. These findings indicate that over 90% of patients with early onset infections and absent B cells have easily detectable mutations in Btk. The remaining patients are heterogeneous.
    • of special interest Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Amer J Hum Genet. 62:1998;1034-1045 The authors describe genetic studies on 101 unrelated families in which the affected male was presumed to have XLA. The studies indentified 83 different mutations in Bruton's tyrosine kinase (Btk) in 94 families. Of the remaining families, only one was likely to have mutations in Btk based on the absence of Btk protein in peripheral blood mononuclear cells. These findings indicate that over 90% of patients with early onset infections and absent B cells have easily detectable mutations in Btk. The remaining patients are heterogeneous.
    • (1998) Amer J Hum Genet , vol.62 , pp. 1034-1045
    • Conley, M.E.1    Mathias, D.2    Treadaway, J.3    Minegishi, Y.4    Rohrer, J.5
  • 59
    • 0031594211 scopus 로고    scopus 로고
    • Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia
    • of special interest. This reports that a patient with less than 1% of the normal number of B cells was found to have mutations in the gene for λ5/14.1. Pre-B cells from this patient were negative for VpreB, indicating that in the absence of λ5/14.1, VpreB is unstable.
    • of special interest Minegishi Y, Coustan-Smith E, Wang Y-H, Cooper MD, Campana MD, Conley ME. Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med. 187:1998;71-77 This reports that a patient with less than 1% of the normal number of B cells was found to have mutations in the gene for λ5/14.1. Pre-B cells from this patient were negative for VpreB, indicating that in the absence of λ5/14.1, VpreB is unstable.
    • (1998) J Exp Med , vol.187 , pp. 71-77
    • Minegishi, Y.1    Coustan-Smith, E.2    Wang Y-H3    Cooper, M.D.4    Campana, M.D.5    Conley, M.E.6
  • 60
    • 0030825192 scopus 로고    scopus 로고
    • Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia
    • Saha BK, Curtis SK, Vogler LB, Vihinen M. Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. Mol Med. 3:1997;477-485.
    • (1997) Mol Med , vol.3 , pp. 477-485
    • Saha, B.K.1    Curtis, S.K.2    Vogler, L.B.3    Vihinen, M.4
  • 62
    • 0030944113 scopus 로고    scopus 로고
    • Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3′ splice site
    • Haire RN, Ohta Y, Strong SC, Litman RT, Liu Y, Prchal JT, Cooper MD, Litman GW. Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3′ splice site. Amer J Hum Genet. 60:1997;798-807.
    • (1997) Amer J Hum Genet , vol.60 , pp. 798-807
    • Haire, R.N.1    Ohta, Y.2    Strong, S.C.3    Litman, R.T.4    Liu, Y.5    Prchal, J.T.6    Cooper, M.D.7    Litman, G.W.8
  • 66
    • 0031911730 scopus 로고    scopus 로고
    • Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): The use of protein analysis as a diagnostic indicator of XLA
    • Gaspar HB, Lester T, Levinsky RJ, Kinnon C. Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA. Clin Exp Immunol. 111:1998;334-338.
    • (1998) Clin Exp Immunol , vol.111 , pp. 334-338
    • Gaspar, H.B.1    Lester, T.2    Levinsky, R.J.3    Kinnon, C.4
  • 67
    • 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
    • of special interest. This reports that of a total of 41 patients with X-linked agammaglobulinemia, 40 had markedly diminished or absent Btk protein in mononuclear cells. This suggests that the vast majority of Btk mutations result in unstable Btk message or protein and dominant-negative mutations in Btk are unlikely to disrupt attempts to treat patients with gene therapy.
    • of special interest Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, Kurimoto M, Niida Y, Matsuoka H, Sakiyama Y, 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. 91:1998;595-602 This reports that of a total of 41 patients with X-linked agammaglobulinemia, 40 had markedly diminished or absent Btk protein in mononuclear cells. This suggests that the vast majority of Btk mutations result in unstable Btk message or protein and dominant-negative mutations in Btk are unlikely to disrupt attempts to treat patients with gene therapy.
    • (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    Kurimoto, M.7    Niida, Y.8    Matsuoka, H.9    Sakiyama, Y.10
  • 73
  • 74
    • 0029804461 scopus 로고    scopus 로고
    • Profound reduction of mature B cell numbers, reactivities and serum Ig levels in mice which simultaneously carry the XID and CD40 deficiency genes
    • Oka Y, Rolink AG, Andersson J, Kamanaka M, Uchia J, Yasui T, Kishimoto T, Kikutani H, Melchers F. Profound reduction of mature B cell numbers, reactivities and serum Ig levels in mice which simultaneously carry the XID and CD40 deficiency genes. Int Immunol. 8:1996;1675-1685.
    • (1996) Int Immunol , vol.8 , pp. 1675-1685
    • Oka, Y.1    Rolink, A.G.2    Andersson, J.3    Kamanaka, M.4    Uchia, J.5    Yasui, T.6    Kishimoto, T.7    Kikutani, H.8    Melchers, F.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.