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Volumn 121, Issue 1, 2000, Pages 127-132

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

Author keywords

Apoptosis; DiGeorge syndrome; TCR repertoire; TCR signalling; Thymus; Velocardiofacial syndrome

Indexed keywords

CD4 ANTIGEN; CD8 ANTIGEN; T LYMPHOCYTE RECEPTOR;

EID: 0033919852     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2000.01247.x     Document Type: Article
Times cited : (32)

References (44)
  • 1
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism
    • Good RA, Bergsma D, eds, Birth Defects Original Article Series. New York: New York National Foundation Press
    • DiGeorge A. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. In: Good RA, Bergsma D, eds. Immunologic deficiency diseases in man, Birth Defects Original Article Series. New York: New York National Foundation Press, 1968; 4:116-21.
    • (1968) Immunologic Deficiency Diseases in Man , vol.4 , pp. 116-121
    • DiGeorge, A.1
  • 2
    • 0025913982 scopus 로고
    • The DiGeorge anomaly
    • Hong R. The DiGeorge anomaly. Immunodef Rev 1991; 3:1-14.
    • (1991) Immunodef Rev , vol.3 , pp. 1-14
    • Hong, R.1
  • 3
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50:924-33.
    • (1992) Am J Hum Genet , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 4
    • 0026688328 scopus 로고
    • Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
    • Carey AH, Kelly D, Halford S et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992; 51:964-70.
    • (1992) Am J Hum Genet , vol.51 , pp. 964-970
    • Carey, A.H.1    Kelly, D.2    Halford, S.3
  • 5
    • 8044247810 scopus 로고    scopus 로고
    • UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
    • Pizzuti A, Novelli G, Ratti A et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 1997; 6:259-65.
    • (1997) Hum Mol Genet , vol.6 , pp. 259-265
    • Pizzuti, A.1    Novelli, G.2    Ratti, A.3
  • 6
    • 0032498935 scopus 로고    scopus 로고
    • Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)
    • Novelli G, Mari A, Amati F et al. Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L). Biochim Biophys Acta 1998; 1396:158-62.
    • (1998) Biochim Biophys Acta , vol.1396 , pp. 158-162
    • Novelli, G.1    Mari, A.2    Amati, F.3
  • 7
    • 0033582626 scopus 로고    scopus 로고
    • A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
    • Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999; 283:1158-61.
    • (1999) Science , vol.283 , pp. 1158-1161
    • Yamagishi, H.1    Garg, V.2    Matsuoka, R.3    Thomas, T.4    Srivastava, D.5
  • 8
    • 0026662962 scopus 로고
    • Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
    • Driscoll DA, Spinner NB, Budarf ML et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 1992; 44:261-8.
    • (1992) Am J Med Genet , vol.44 , pp. 261-268
    • Driscoll, D.A.1    Spinner, N.B.2    Budarf, M.L.3
  • 9
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • Driscoll AD, Salvin J, Sellinger B, Budarf ML, MacDonald-MacGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 1993; 30:813-7.
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, A.D.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    MacDonald-MacGinn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 10
    • 0027459424 scopus 로고
    • Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
    • Kelly D, Goldberg R, Wilson D et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993; 45:308-12.
    • (1993) Am J Med Genet , vol.45 , pp. 308-312
    • Kelly, D.1    Goldberg, R.2    Wilson, D.3
  • 13
    • 15844403609 scopus 로고    scopus 로고
    • A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
    • Daw S, Taylor C, Kramam M et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nature Med 1996; 13:458-60.
    • (1996) Nature Med , vol.13 , pp. 458-460
    • Daw, S.1    Taylor, C.2    Kramam, M.3
  • 14
    • 0030199636 scopus 로고    scopus 로고
    • Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion
    • Pignata C, D'Agostino A, Finelli P et al. Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion. Clin Immunol Immunopathol 1996; 80:9-15.
    • (1996) Clin Immunol Immunopathol , vol.80 , pp. 9-15
    • Pignata, C.1    D'Agostino, A.2    Finelli, P.3
  • 15
    • 0024310736 scopus 로고
    • The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder
    • Muller W, Peter H, Kallfelz H, Franz A, Rieger C. The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur J Pediatr 1989; 149:96-103.
    • (1989) Eur J Pediatr , vol.149 , pp. 96-103
    • Muller, W.1    Peter, H.2    Kallfelz, H.3    Franz, A.4    Rieger, C.5
  • 16
    • 0023902011 scopus 로고
    • Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome
    • Radford DJ, Perkins L, Lachman R, Thong YH. Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome. Pediatr Cardiol 1988; 9:95-101.
    • (1988) Pediatr Cardiol , vol.9 , pp. 95-101
    • Radford, D.J.1    Perkins, L.2    Lachman, R.3    Thong, Y.H.4
  • 18
    • 0029151334 scopus 로고
    • Humoral immunity in DiGeorge syndrome
    • Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr 1995; 127:231-7.
    • (1995) J Pediatr , vol.127 , pp. 231-237
    • Junker, A.K.1    Driscoll, D.A.2
  • 20
    • 0031816589 scopus 로고    scopus 로고
    • Increased spontaneous apoptosis in T lymphocytes in DiGeorge anomaly
    • Gupta S, Aggarwal S, Nguyen T. Increased spontaneous apoptosis in T lymphocytes in DiGeorge anomaly. Clin Exp Immunol 1998; 113:65-71.
    • (1998) Clin Exp Immunol , vol.113 , pp. 65-71
    • Gupta, S.1    Aggarwal, S.2    Nguyen, T.3
  • 23
    • 0032007010 scopus 로고    scopus 로고
    • Lack of correlation between impaired T cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome)
    • Sullivan KE, Jawad AF, Randall JP, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH. Lack of correlation between impaired T cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol Immunopathol 1998; 86:141-6.
    • (1998) Clin Immunol Immunopathol , vol.86 , pp. 141-146
    • Sullivan, K.E.1    Jawad, A.F.2    Randall, J.P.3    Driscoll, D.A.4    Emanuel, B.S.5    McDonald-McGinn, D.M.6    Zackai, E.H.7
  • 24
    • 0029856924 scopus 로고    scopus 로고
    • Regulation of an extrathymic T-cell development pathway by oncostatin M
    • Clegg C, Rulffes J, Wallace P, Haugen H. Regulation of an extrathymic T-cell development pathway by oncostatin M. Nature 1996; 384:261-3.
    • (1996) Nature , vol.384 , pp. 261-263
    • Clegg, C.1    Rulffes, J.2    Wallace, P.3    Haugen, H.4
  • 25
    • 0031024070 scopus 로고    scopus 로고
    • Another way to generate T cells?
    • Metcalf D. Another way to generate T cells? Nature Med 1997; 3:18-19.
    • (1997) Nature Med , vol.3 , pp. 18-19
    • Metcalf, D.1
  • 26
    • 19144364568 scopus 로고    scopus 로고
    • Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome
    • Pizzuti A, Novelli G, Mari A et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996; 58:722-9.
    • (1996) Am J Hum Genet , vol.58 , pp. 722-729
    • Pizzuti, A.1    Novelli, G.2    Mari, A.3
  • 27
    • 0026695579 scopus 로고
    • T cell heterogeneity in patients with common variable immunodeficiency as assessed by abnormalities of T cell subpopulations and T cell receptor gene analysis
    • Pandolfi F, Trentin L, San MI, Wong JT, Kurnick JT, Moscicki RA. T cell heterogeneity in patients with common variable immunodeficiency as assessed by abnormalities of T cell subpopulations and T cell receptor gene analysis. Clin Exp Immunol 1992; 89:198-203.
    • (1992) Clin Exp Immunol , vol.89 , pp. 198-203
    • Pandolfi, F.1    Trentin, L.2    San, M.I.3    Wong, J.T.4    Kurnick, J.T.5    Moscicki, R.A.6
  • 29
    • 0027501992 scopus 로고
    • Fibroblast-derived factors preserve viability in vitro of mononuclear cells isolated from subjects with HIV-1 infection
    • Pandolfi F, Oliva A, Sacco G et al. Fibroblast-derived factors preserve viability in vitro of mononuclear cells isolated from subjects with HIV-1 infection. AIDS 1993; 7:323-9.
    • (1993) AIDS , vol.7 , pp. 323-329
    • Pandolfi, F.1    Oliva, A.2    Sacco, G.3
  • 30
    • 0029097410 scopus 로고
    • Apoptosis-related mortality in vitro of mononuclear cells from patients with HIV infection correlates with disease severity and progression
    • Pandolfi F, Pierdominici M, Oliva A et al. Apoptosis-related mortality in vitro of mononuclear cells from patients with HIV infection correlates with disease severity and progression. J AIDS 1995; 9:450-8.
    • (1995) J AIDS , vol.9 , pp. 450-458
    • Pandolfi, F.1    Pierdominici, M.2    Oliva, A.3
  • 31
    • 0025743130 scopus 로고
    • Clonally expanded CD3+, CD4-, CD8- cells bearing the alpha/beta or the gamma/delta T-cell receptor in patients with the lymphoproliferative disease of granular lymphocytes
    • Pandolfi F, Foa R, De Rossi G et al. Clonally expanded CD3+, CD4-, CD8- cells bearing the alpha/beta or the gamma/delta T-cell receptor in patients with the lymphoproliferative disease of granular lymphocytes. Clin Immunol Immunopathol 1991; 60:371-83.
    • (1991) Clin Immunol Immunopathol , vol.60 , pp. 371-383
    • Pandolfi, F.1    Foa, R.2    De Rossi, G.3
  • 32
    • 0028930950 scopus 로고
    • Tyrosine phosphorylation pathway is involved in interferon-gamma (IFN-γ) production; effect of sodium ortho vanadate
    • Giovannetti A, Aiuti A, Pizzoli P et al. Tyrosine phosphorylation pathway is involved in interferon-gamma (IFN-γ) production; effect of sodium ortho vanadate. Clin Exp Immunol 1995; 100:157-63.
    • (1995) Clin Exp Immunol , vol.100 , pp. 157-163
    • Giovannetti, A.1    Aiuti, A.2    Pizzoli, P.3
  • 33
    • 0024430847 scopus 로고
    • Prediction of persistent immunodeficiency in the DiGeorge anomaly
    • Bastian J, Law S, Volger L et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 1989; 115:391-6.
    • (1989) J Pediatr , vol.115 , pp. 391-396
    • Bastian, J.1    Law, S.2    Volger, L.3
  • 34
    • 0031918329 scopus 로고    scopus 로고
    • Complete DiGeorge syndrome: Persistence of profound immunodeficiency
    • Markert ML, Hummell DS, Rosenblatt HM et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998; 132:15-21.
    • (1998) J Pediatr , vol.132 , pp. 15-21
    • Markert, M.L.1    Hummell, D.S.2    Rosenblatt, H.M.3
  • 35
    • 0031568004 scopus 로고    scopus 로고
    • Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus
    • Markert ML, Kostyu DD, Ward FE et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J Immunol 1997; 158:998-1005.
    • (1997) J Immunol , vol.158 , pp. 998-1005
    • Markert, M.L.1    Kostyu, D.D.2    Ward, F.E.3
  • 36
    • 0033554731 scopus 로고    scopus 로고
    • Transplantation of thymus tissue in complete DiGeorge syndrome
    • Markert ML, Boeck A, Hale LP et al. Transplantation of thymus tissue in complete DiGeorge syndrome. New Engl J Med 1999; 341:1180-9.
    • (1999) New Engl J Med , vol.341 , pp. 1180-1189
    • Markert, M.L.1    Boeck, A.2    Hale, L.P.3
  • 37
    • 0027251463 scopus 로고
    • The sizes of the CDR3 hypervariable regions of the murine T cell receptor vary as a function of the recombined germ-line segments
    • Pannetier C, Cochet M, Darche S, Casrouge A, Zoller M, Kourilski P. The sizes of the CDR3 hypervariable regions of the murine T cell receptor vary as a function of the recombined germ-line segments. Proc Natl Acad Sci USA 1993; 90:4319-23.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4319-4323
    • Pannetier, C.1    Cochet, M.2    Darche, S.3    Casrouge, A.4    Zoller, M.5    Kourilski, P.6
  • 38
    • 0029142996 scopus 로고
    • Molecular analysis of T cell repertoires. Spectratypes generated by multiplex polymerase chain reaction and evaluated by radioactivity or fluorescence
    • Maslanka K, Piatek T, Gorski J, Yassai M, Gorski J. Molecular analysis of T cell repertoires. Spectratypes generated by multiplex polymerase chain reaction and evaluated by radioactivity or fluorescence. Hum Immunol 1995; 44:28-34.
    • (1995) Hum Immunol , vol.44 , pp. 28-34
    • Maslanka, K.1    Piatek, T.2    Gorski, J.3    Yassai, M.4    Gorski, J.5
  • 39
    • 0032520268 scopus 로고    scopus 로고
    • Oligoclonality of Vδ1 and Vδ2 cells in human peripheral blood mononuclear cells: TCR selection is not altered by stimulation with Gram-negative bacteria
    • Shen J, Andrews DM, Pandolfi F et al. Oligoclonality of Vδ1 and Vδ2 cells in human peripheral blood mononuclear cells: TCR selection is not altered by stimulation with Gram-negative bacteria. J Immunol 1998; 160:3048-55.
    • (1998) J Immunol , vol.160 , pp. 3048-3055
    • Shen, J.1    Andrews, D.M.2    Pandolfi, F.3
  • 40
    • 0028269242 scopus 로고
    • Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene
    • Vissinga CS, Charmley P, Concannon P. Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene. J Immunol 1994; 152:1222-7.
    • (1994) J Immunol , vol.152 , pp. 1222-1227
    • Vissinga, C.S.1    Charmley, P.2    Concannon, P.3
  • 41
    • 0025190718 scopus 로고
    • Allelic variations in the human T cell receptor V beta 6.7 gene products
    • Li Y, Szabo P, Robinson MA, Dong B, Posnett DN. Allelic variations in the human T cell receptor V beta 6.7 gene products. J Exp Med 1990; 171:221-30.
    • (1990) J Exp Med , vol.171 , pp. 221-230
    • Li, Y.1    Szabo, P.2    Robinson, M.A.3    Dong, B.4    Posnett, D.N.5
  • 42
    • 0028351920 scopus 로고
    • Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence
    • Posnett DN, Vissinga CS, Pambuccian C et al. Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence. J Exp Med 1994; 179:1707-11.
    • (1994) J Exp Med , vol.179 , pp. 1707-1711
    • Posnett, D.N.1    Vissinga, C.S.2    Pambuccian, C.3
  • 43
    • 0024468088 scopus 로고
    • Calcium-dependent killing of immature thymocytes by stimulation via the CD3/T cell receptor complex
    • McConkey D, Hartzell P, Chow S, Orrenius S, Jondal M. Calcium-dependent killing of immature thymocytes by stimulation via the CD3/T cell receptor complex. J Immunol 1989; 143:1801-6.
    • (1989) J Immunol , vol.143 , pp. 1801-1806
    • McConkey, D.1    Hartzell, P.2    Chow, S.3    Orrenius, S.4    Jondal, M.5
  • 44
    • 0015383455 scopus 로고
    • Apoptosis: A basic biological phenomenon with wide ranging implication in tissue kinetics
    • Kerr J, Wyllie A, Currie A. Apoptosis: a basic biological phenomenon with wide ranging implication in tissue kinetics. Br J Cancer 1972; 26:239-57.
    • (1972) Br J Cancer , vol.26 , pp. 239-257
    • Kerr, J.1    Wyllie, A.2    Currie, A.3


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