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Volumn 122, Issue 2, 2008, Pages

Immunologic defects in 22q11.2 deletion syndrome

Author keywords

22q11.2 Deletion syndrome; autoimmunity; DiGeorge syndrome; lymphocyte count; memory B cells; regulatory T cells

Indexed keywords

TRANSCRIPTION FACTOR FOXP3;

EID: 48349130692     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2008.03.033     Document Type: Article
Times cited : (86)

References (40)
  • 1
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
    • Kobrynski L.J., and Sullivan K.E. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370 (2007) 1443-1452
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 3
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 22q11 deletions in infancy
    • Goodship J., Cross I., LiLing J., and Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79 (1998) 348-351
    • (1998) Arch Dis Child , vol.79 , pp. 348-351
    • Goodship, J.1    Cross, I.2    LiLing, J.3    Wren, C.4
  • 4
    • 0032007010 scopus 로고    scopus 로고
    • Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes
    • Sullivan K.E., Jawad A.F., Randall P., Driscoll D.A., Emanuel B.S., McDonald-McGinn D.M., et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 86 (1998) 141-146
    • (1998) Clin Immunol Immunopathol , vol.86 , pp. 141-146
    • Sullivan, K.E.1    Jawad, A.F.2    Randall, P.3    Driscoll, D.A.4    Emanuel, B.S.5    McDonald-McGinn, D.M.6
  • 5
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • Perez E., and Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 14 (2002) 678-683
    • (2002) Curr Opin Pediatr , vol.14 , pp. 678-683
    • Perez, E.1    Sullivan, K.E.2
  • 7
    • 0029151334 scopus 로고
    • Humoral immunity in DiGeorge syndrome
    • Junker A.K., and Driscoll D.A. Humoral immunity in DiGeorge syndrome. J Pediatr 127 (1995) 231-237
    • (1995) J Pediatr , vol.127 , pp. 231-237
    • Junker, A.K.1    Driscoll, D.A.2
  • 8
    • 0031833947 scopus 로고    scopus 로고
    • Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    • Smith C.A., Driscoll D.A., Emanuel B.S., McDonald-McGinn D.M., Zackai E.H., and Sullivan K.E. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 5 (1998) 415-417
    • (1998) Clin Diagn Lab Immunol , vol.5 , pp. 415-417
    • Smith, C.A.1    Driscoll, D.A.2    Emanuel, B.S.3    McDonald-McGinn, D.M.4    Zackai, E.H.5    Sullivan, K.E.6
  • 10
    • 0035196580 scopus 로고    scopus 로고
    • Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    • Jawad A.F., McDonald-Mcginn D.M., Zackai E., and Sullivan K.E. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr 139 (2001) 715-723
    • (2001) J Pediatr , vol.139 , pp. 715-723
    • Jawad, A.F.1    McDonald-Mcginn, D.M.2    Zackai, E.3    Sullivan, K.E.4
  • 11
    • 33745611372 scopus 로고    scopus 로고
    • Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)
    • Finocchi A., Di Cesare S., Romiti M.L., Capponi C., Rossi P., Carsetti R., et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol 17 (2006) 382-388
    • (2006) Pediatr Allergy Immunol , vol.17 , pp. 382-388
    • Finocchi, A.1    Di Cesare, S.2    Romiti, M.L.3    Capponi, C.4    Rossi, P.5    Carsetti, R.6
  • 14
    • 7044235780 scopus 로고    scopus 로고
    • Refractory autoimmune hemolytic anemia in a patient with chromosome 22q11.2 deletion syndrome
    • Sakamoto O., Imaizumi M., Suzuki A., Sato A., Tanaka T., Ogawa E., et al. Refractory autoimmune hemolytic anemia in a patient with chromosome 22q11.2 deletion syndrome. Pediatr Int 46 (2004) 612-614
    • (2004) Pediatr Int , vol.46 , pp. 612-614
    • Sakamoto, O.1    Imaizumi, M.2    Suzuki, A.3    Sato, A.4    Tanaka, T.5    Ogawa, E.6
  • 15
    • 0030951648 scopus 로고    scopus 로고
    • Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)
    • Sullivan K.E., McDonald-McGinn D.M., Driscoll D.A., Zmijewski C.M., Ellabban A.S., Reed L., et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40 (1997) 430-436
    • (1997) Arthritis Rheum , vol.40 , pp. 430-436
    • Sullivan, K.E.1    McDonald-McGinn, D.M.2    Driscoll, D.A.3    Zmijewski, C.M.4    Ellabban, A.S.5    Reed, L.6
  • 16
    • 8644287589 scopus 로고    scopus 로고
    • Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion
    • Brown J.J., Datta V., Browning M.J., and Swift P.G. Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion. J Pediatr Endocrinol Metab 17 (2004) 1575-1579
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 1575-1579
    • Brown, J.J.1    Datta, V.2    Browning, M.J.3    Swift, P.G.4
  • 17
    • 33646168597 scopus 로고    scopus 로고
    • FOXP3: of mice and men
    • Ziegler S.F. FOXP3: of mice and men. Annu Rev Immunol 24 (2006) 209-226
    • (2006) Annu Rev Immunol , vol.24 , pp. 209-226
    • Ziegler, S.F.1
  • 19
    • 0029788211 scopus 로고    scopus 로고
    • Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation
    • Asano M., Toda M., Sakaguchi N., and Sakaguchi S. Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation. J Exp Med 184 (1996) 387-396
    • (1996) J Exp Med , vol.184 , pp. 387-396
    • Asano, M.1    Toda, M.2    Sakaguchi, N.3    Sakaguchi, S.4
  • 20
    • 0036733569 scopus 로고    scopus 로고
    • CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia
    • Sullivan K.E., McDonald-McGinn D., and Zackai E.H. CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol 9 (2002) 1129-1131
    • (2002) Clin Diagn Lab Immunol , vol.9 , pp. 1129-1131
    • Sullivan, K.E.1    McDonald-McGinn, D.2    Zackai, E.H.3
  • 21
    • 36849034520 scopus 로고    scopus 로고
    • T cell receptor VBeta repertoire of T lymphocytes and T regulatory cells by flow cytometric analysis in healthy children
    • McLean-Tooke A., Barge D., Spickett G.P., and Gennery A.R. T cell receptor VBeta repertoire of T lymphocytes and T regulatory cells by flow cytometric analysis in healthy children. Clin Exp Immunol 151 (2008) 190-198
    • (2008) Clin Exp Immunol , vol.151 , pp. 190-198
    • McLean-Tooke, A.1    Barge, D.2    Spickett, G.P.3    Gennery, A.R.4
  • 22
    • 24744449753 scopus 로고    scopus 로고
    • Naive T cells are maintained in the periphery during the first 3 months of acute HIV-1 infection: implications for analysis of thymus function
    • Sempowski G.D., Hicks C.B., Eron J.J., Bartlett J.A., Hale L.P., Ferrari G., et al. Naive T cells are maintained in the periphery during the first 3 months of acute HIV-1 infection: implications for analysis of thymus function. J Clin Immunol 25 (2005) 462-472
    • (2005) J Clin Immunol , vol.25 , pp. 462-472
    • Sempowski, G.D.1    Hicks, C.B.2    Eron, J.J.3    Bartlett, J.A.4    Hale, L.P.5    Ferrari, G.6
  • 23
    • 0037128660 scopus 로고    scopus 로고
    • Two subsets of naive T helper cells with distinct T cell receptor excision circle content in human adult peripheral blood
    • Kimmig S., Przybylski G.K., Schmidt C.A., Laurisch K., Mowes B., Radbruch A., et al. Two subsets of naive T helper cells with distinct T cell receptor excision circle content in human adult peripheral blood. J Exp Med 195 (2002) 789-794
    • (2002) J Exp Med , vol.195 , pp. 789-794
    • Kimmig, S.1    Przybylski, G.K.2    Schmidt, C.A.3    Laurisch, K.4    Mowes, B.5    Radbruch, A.6
  • 24
    • 36249011444 scopus 로고    scopus 로고
    • Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children
    • Junge S., Kloeckener-Gruissem B., Zufferey R., Keisker A., Salgo B., Fauchere J.C., et al. Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. Eur J Immunol 37 (2007) 3270-3280
    • (2007) Eur J Immunol , vol.37 , pp. 3270-3280
    • Junge, S.1    Kloeckener-Gruissem, B.2    Zufferey, R.3    Keisker, A.4    Salgo, B.5    Fauchere, J.C.6
  • 25
    • 0032476611 scopus 로고    scopus 로고
    • Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells
    • Klein U., Rajewsky K., and Kuppers R. Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells. J Exp Med 188 (1998) 1679-1689
    • (1998) J Exp Med , vol.188 , pp. 1679-1689
    • Klein, U.1    Rajewsky, K.2    Kuppers, R.3
  • 26
    • 0042062259 scopus 로고    scopus 로고
    • Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM
    • Shi Y., Agematsu K., Ochs H.D., and Sugane K. Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM. Clin Immunol 108 (2003) 128-137
    • (2003) Clin Immunol , vol.108 , pp. 128-137
    • Shi, Y.1    Agematsu, K.2    Ochs, H.D.3    Sugane, K.4
  • 27
    • 33645105072 scopus 로고    scopus 로고
    • Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome
    • Kanaya Y., Ohga S., Ikeda K., Furuno K., Ohno T., Takada H., et al. Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome. Clin Exp Immunol 144 (2006) 85-93
    • (2006) Clin Exp Immunol , vol.144 , pp. 85-93
    • Kanaya, Y.1    Ohga, S.2    Ikeda, K.3    Furuno, K.4    Ohno, T.5    Takada, H.6
  • 28
    • 33846805937 scopus 로고    scopus 로고
    • Development and selection of gammadelta T cells
    • Xiong N., and Raulet D.H. Development and selection of gammadelta T cells. Immunol Rev 215 (2007) 15-31
    • (2007) Immunol Rev , vol.215 , pp. 15-31
    • Xiong, N.1    Raulet, D.H.2
  • 29
    • 1642581677 scopus 로고    scopus 로고
    • T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome
    • Piliero L.M., Sanford A.N., McDonald-McGinn D.M., Zackai E.H., and Sullivan K.E. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 103 (2004) 1020-1025
    • (2004) Blood , vol.103 , pp. 1020-1025
    • Piliero, L.M.1    Sanford, A.N.2    McDonald-McGinn, D.M.3    Zackai, E.H.4    Sullivan, K.E.5
  • 30
    • 1642424244 scopus 로고    scopus 로고
    • Naive T cells are maintained by thymic output in early ages but by proliferation without phenotypic change after age twenty
    • Murray J.M., Kaufmann G.R., Hodgkin P.D., Lewin S.R., Kelleher A.D., Davenport M.P., et al. Naive T cells are maintained by thymic output in early ages but by proliferation without phenotypic change after age twenty. Immunol Cell Biol 81 (2003) 487-495
    • (2003) Immunol Cell Biol , vol.81 , pp. 487-495
    • Murray, J.M.1    Kaufmann, G.R.2    Hodgkin, P.D.3    Lewin, S.R.4    Kelleher, A.D.5    Davenport, M.P.6
  • 31
    • 0033769778 scopus 로고    scopus 로고
    • Evaluation of thymopoiesis using T cell receptor excision circles (TRECs): differential correlation between adult and pediatric TRECs and naive phenotypes
    • Steffens C.M., Al-Harthi L., Shott S., Yogev R., and Landay A. Evaluation of thymopoiesis using T cell receptor excision circles (TRECs): differential correlation between adult and pediatric TRECs and naive phenotypes. Clin Immunol 97 (2000) 95-101
    • (2000) Clin Immunol , vol.97 , pp. 95-101
    • Steffens, C.M.1    Al-Harthi, L.2    Shott, S.3    Yogev, R.4    Landay, A.5
  • 32
    • 16844371602 scopus 로고    scopus 로고
    • T cell homeostasis: keeping useful T cells alive and live T cells useful
    • Jameson S.C. T cell homeostasis: keeping useful T cells alive and live T cells useful. Semin Immunol 17 (2005) 231-237
    • (2005) Semin Immunol , vol.17 , pp. 231-237
    • Jameson, S.C.1
  • 33
    • 33751192027 scopus 로고    scopus 로고
    • T cell homeostasis in steady state and lymphopenic conditions
    • Bourgeois C., and Stockinger B. T cell homeostasis in steady state and lymphopenic conditions. Immunol Lett 107 (2006) 89-92
    • (2006) Immunol Lett , vol.107 , pp. 89-92
    • Bourgeois, C.1    Stockinger, B.2
  • 34
    • 17244367884 scopus 로고    scopus 로고
    • Memory T cells have gene expression patterns intermediate between naive and effector
    • Holmes S., He M., Xu T., and Lee P.P. Memory T cells have gene expression patterns intermediate between naive and effector. Proc Natl Acad Sci U S A 102 (2005) 5519-5523
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 5519-5523
    • Holmes, S.1    He, M.2    Xu, T.3    Lee, P.P.4
  • 35
    • 33847651713 scopus 로고    scopus 로고
    • Thymic development and peripheral homeostasis of regulatory T cells
    • Liston A., and Rudensky A.Y. Thymic development and peripheral homeostasis of regulatory T cells. Curr Opin Immunol 19 (2007) 176-185
    • (2007) Curr Opin Immunol , vol.19 , pp. 176-185
    • Liston, A.1    Rudensky, A.Y.2
  • 36
    • 35448966105 scopus 로고    scopus 로고
    • Human regulatory T cells: a unique, stable thymic subset or a reversible peripheral state of differentiation?
    • Pillai V., and Karandikar N.J. Human regulatory T cells: a unique, stable thymic subset or a reversible peripheral state of differentiation?. Immunol Lett 114 (2007) 9-15
    • (2007) Immunol Lett , vol.114 , pp. 9-15
    • Pillai, V.1    Karandikar, N.J.2
  • 37
    • 33748296240 scopus 로고    scopus 로고
    • Human CD4+ CD25hi Foxp3+ regulatory T cells are derived by rapid turnover of memory populations in vivo
    • Vukmanovic-Stejic M., Zhang Y., Cook J.E., Fletcher J.M., McQuaid A., Masters J.E., et al. Human CD4+ CD25hi Foxp3+ regulatory T cells are derived by rapid turnover of memory populations in vivo. J Clin Invest 116 (2006) 2423-2433
    • (2006) J Clin Invest , vol.116 , pp. 2423-2433
    • Vukmanovic-Stejic, M.1    Zhang, Y.2    Cook, J.E.3    Fletcher, J.M.4    McQuaid, A.5    Masters, J.E.6
  • 39
    • 3142747489 scopus 로고    scopus 로고
    • 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency
    • Al-Herz W., McGeady S.J., and Gripp K.W. 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency. Am J Med Genet A 127 (2004) 99-100
    • (2004) Am J Med Genet A , vol.127 , pp. 99-100
    • Al-Herz, W.1    McGeady, S.J.2    Gripp, K.W.3
  • 40
    • 0033822039 scopus 로고    scopus 로고
    • B-cell activation by T-cell-independent type 2 antigens as an integral part of the humoral immune response to pathogenic microorganisms
    • Vos Q., Lees A., Wu Z.Q., Snapper C.M., and Mond J.J. B-cell activation by T-cell-independent type 2 antigens as an integral part of the humoral immune response to pathogenic microorganisms. Immunol Rev 176 (2000) 154-170
    • (2000) Immunol Rev , vol.176 , pp. 154-170
    • Vos, Q.1    Lees, A.2    Wu, Z.Q.3    Snapper, C.M.4    Mond, J.J.5


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