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Volumn 120, Issue 5, 2007, Pages 1178-1185

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes

Author keywords

B cell; Common variable immune deficiency; IgA; IgG; immune thrombocytopenia purpura; splenectomy; TACI

Indexed keywords

APRIL PROTEIN; CALCIUM; CYCLOPHILIN; GENOMIC DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; LIGAND;

EID: 35748953111     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2007.10.001     Document Type: Article
Times cited : (140)

References (34)
  • 1
    • 0032806334 scopus 로고    scopus 로고
    • Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
    • Conley M.E., Notarangelo L.D., and Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93 (1999) 190-197
    • (1999) Clin Immunol , vol.93 , pp. 190-197
    • Conley, M.E.1    Notarangelo, L.D.2    Etzioni, A.3
  • 2
    • 0032976666 scopus 로고    scopus 로고
    • Common variable immunodeficiency: clinical and immunological features of 248 patients
    • Cunningham-Rundles C., and Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92 (1999) 34-48
    • (1999) Clin Immunol , vol.92 , pp. 34-48
    • Cunningham-Rundles, C.1    Bodian, C.2
  • 4
    • 0037390479 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: an update
    • Chapel H., Geha R., and Rosen F. Primary immunodeficiency diseases: an update. Clin Exp Immunol 132 (2003) 9-15
    • (2003) Clin Exp Immunol , vol.132 , pp. 9-15
    • Chapel, H.1    Geha, R.2    Rosen, F.3
  • 5
  • 7
    • 33748045446 scopus 로고    scopus 로고
    • Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?
    • Salzer U., and Grimbacher B. Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?. Curr Opin Rheumatol 18 (2006) 377-382
    • (2006) Curr Opin Rheumatol , vol.18 , pp. 377-382
    • Salzer, U.1    Grimbacher, B.2
  • 11
    • 0036732753 scopus 로고    scopus 로고
    • DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL
    • Litinskiy M.B., Nardelli B., Hilbert D.M., He B., Schaffer A., Casali P., et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol 3 (2002) 822-829
    • (2002) Nat Immunol , vol.3 , pp. 822-829
    • Litinskiy, M.B.1    Nardelli, B.2    Hilbert, D.M.3    He, B.4    Schaffer, A.5    Casali, P.6
  • 12
    • 0035004320 scopus 로고    scopus 로고
    • Regulation of the T-independent humoral response by TACI
    • von Bulow G.U., van Deursen J.M., and Bram R.J. Regulation of the T-independent humoral response by TACI. Immunity 14 (2001) 573-582
    • (2001) Immunity , vol.14 , pp. 573-582
    • von Bulow, G.U.1    van Deursen, J.M.2    Bram, R.J.3
  • 14
    • 0037332043 scopus 로고    scopus 로고
    • Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor
    • Seshasayee D., Valdez P., Yan M., Dixit V.M., Tumas D., and Grewal I.S. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity 18 (2003) 279-288
    • (2003) Immunity , vol.18 , pp. 279-288
    • Seshasayee, D.1    Valdez, P.2    Yan, M.3    Dixit, V.M.4    Tumas, D.5    Grewal, I.S.6
  • 16
    • 20044366916 scopus 로고    scopus 로고
    • Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding
    • Hymowitz S.G., Patel D.R., Wallweber H.J., Runyon S., Yan M., Yin J., et al. Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding. J Biol Chem 280 (2005) 7218-7227
    • (2005) J Biol Chem , vol.280 , pp. 7218-7227
    • Hymowitz, S.G.1    Patel, D.R.2    Wallweber, H.J.3    Runyon, S.4    Yan, M.5    Yin, J.6
  • 17
    • 34249909831 scopus 로고    scopus 로고
    • Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)
    • Garibyan L., Lobito A.A., Siegel R.M., Call M.E., Wucherpfennig K.W., and Geha R.S. Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J Clin Invest 117 (2007) 1550-1557
    • (2007) J Clin Invest , vol.117 , pp. 1550-1557
    • Garibyan, L.1    Lobito, A.A.2    Siegel, R.M.3    Call, M.E.4    Wucherpfennig, K.W.5    Geha, R.S.6
  • 19
    • 34047107195 scopus 로고    scopus 로고
    • Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
    • Pan-Hammarstrom Q., Salzer U., Du L., Bjorkander J., Cunningham-Rundles C., Nelson D.L., et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 39 (2007) 429-430
    • (2007) Nat Genet , vol.39 , pp. 429-430
    • Pan-Hammarstrom, Q.1    Salzer, U.2    Du, L.3    Bjorkander, J.4    Cunningham-Rundles, C.5    Nelson, D.L.6
  • 20
    • 0034699367 scopus 로고    scopus 로고
    • Analysing cell division in vivo and in vitro using flow cytometric measurement of CFSE dye dilution
    • Lyons B.A. Analysing cell division in vivo and in vitro using flow cytometric measurement of CFSE dye dilution. J Immunol Methods 243 (2000) 147-154
    • (2000) J Immunol Methods , vol.243 , pp. 147-154
    • Lyons, B.A.1
  • 21
    • 0034108060 scopus 로고    scopus 로고
    • Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)
    • Hammarstrom L., Vorechovsky I., and Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol 120 (2000) 225-231
    • (2000) Clin Exp Immunol , vol.120 , pp. 225-231
    • Hammarstrom, L.1    Vorechovsky, I.2    Webster, D.3
  • 24
    • 0024594085 scopus 로고
    • Defective DNA synthesis by T cells in acquired "common-variable" hypogammaglobulinaemia on stimulation with mitogens
    • North M.E., Spickett G.P., Allsop J., Webster A.D., and Farrant J. Defective DNA synthesis by T cells in acquired "common-variable" hypogammaglobulinaemia on stimulation with mitogens. Clin Exp Immunol 76 (1989) 19-23
    • (1989) Clin Exp Immunol , vol.76 , pp. 19-23
    • North, M.E.1    Spickett, G.P.2    Allsop, J.3    Webster, A.D.4    Farrant, J.5
  • 25
    • 0028003720 scopus 로고
    • A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency
    • Fischer M.B., Hauber I., Eggenbauer H., Thon V., Vogel E., Schaffer E., et al. A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency. Blood 84 (1994) 4234-4241
    • (1994) Blood , vol.84 , pp. 4234-4241
    • Fischer, M.B.1    Hauber, I.2    Eggenbauer, H.3    Thon, V.4    Vogel, E.5    Schaffer, E.6
  • 27
    • 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. MRC Immunodeficiency Group
    • Kondratenko I., Amlot P.L., Webster A.D., and Farrant J. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells. MRC Immunodeficiency Group. Clin Exp Immunol 108 (1997) 9-13
    • (1997) Clin Exp Immunol , vol.108 , pp. 9-13
    • Kondratenko, I.1    Amlot, P.L.2    Webster, A.D.3    Farrant, J.4
  • 28
  • 30
    • 33947592601 scopus 로고    scopus 로고
    • TACI regulates IgA production by APRIL in collaboration with HSPG
    • Sakurai D., Hase H., Kanno Y., Kojima H., Okumura K., and Kobata T. TACI regulates IgA production by APRIL in collaboration with HSPG. Blood 107 (2007) 2961-2967
    • (2007) Blood , vol.107 , pp. 2961-2967
    • Sakurai, D.1    Hase, H.2    Kanno, Y.3    Kojima, H.4    Okumura, K.5    Kobata, T.6
  • 31
    • 0034232338 scopus 로고    scopus 로고
    • Identification of a receptor for BLyS demonstrates a crucial role in humoral immunity
    • Yan M., Marsters S.A., Grewal I.S., Wang H., Ashkenazi A., and Dixit V.M. Identification of a receptor for BLyS demonstrates a crucial role in humoral immunity. Nat Immunol 1 (2000) 37-41
    • (2000) Nat Immunol , vol.1 , pp. 37-41
    • Yan, M.1    Marsters, S.A.2    Grewal, I.S.3    Wang, H.4    Ashkenazi, A.5    Dixit, V.M.6
  • 34
    • 33645067636 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype
    • Worth A., Thrasher A.J., and Gaspar H.B. Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol 133 (2006) 124-140
    • (2006) Br J Haematol , vol.133 , pp. 124-140
    • Worth, A.1    Thrasher, A.J.2    Gaspar, H.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.