메뉴 건너뛰기




Volumn 6, Issue 10, 2017, Pages

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus

Author keywords

[No Author keywords available]

Indexed keywords


EID: 85047015687     PISSN: None     EISSN: 20500068     Source Type: Journal    
DOI: 10.1038/CTI.2017.41     Document Type: Article
Times cited : (46)

References (42)
  • 1
    • 84943813357 scopus 로고    scopus 로고
    • Common variable immunodeficiency: Diagnosis, management, and treatment
    • Abbott JK, Gelfand EW. Common variable immunodeficiency: diagnosis, management, and treatment. Immunol Allergy Clin North Am 2015; 35: 637–658.
    • (2015) Immunol Allergy Clin North Am , vol.35 , pp. 637-658
    • Abbott, J.K.1    Gelfand, E.W.2
  • 2
    • 84884577258 scopus 로고    scopus 로고
    • New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin
    • Ameratunga R, Woon ST, Gillis D, Koopmans W, Steele R. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol 2013; 174: 203–211.
    • (2013) Clin Exp Immunol , vol.174 , pp. 203-211
    • Ameratunga, R.1    Woon, S.T.2    Gillis, D.3    Koopmans, W.4    Steele, R.5
  • 3
    • 0037340349 scopus 로고    scopus 로고
    • Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
    • Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003; 4: 261–268.
    • (2003) Nat Immunol , vol.4 , pp. 261-268
    • Grimbacher, B.1    Hutloff, A.2    Schlesier, M.3    Glocker, E.4    Warnatz, K.5    Drager, R.6
  • 5
    • 77951146803 scopus 로고    scopus 로고
    • CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
    • van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest 2010; 120: 1265–1274.
    • (2010) J Clin Invest , vol.120 , pp. 1265-1274
    • van Zelm, M.C.1    Smet, J.2    Adams, B.3    Mascart, F.4    Schandene, L.5    Janssen, F.6
  • 6
    • 84941025793 scopus 로고    scopus 로고
    • Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency
    • Fliegauf M, Bryant VL, Frede N, Slade C, Woon S-T, Lehnert K et al. Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency. Am J Hum Genet 2015; 97: 389–403.
    • (2015) Am J Hum Genet , vol.97 , pp. 389-403
    • Fliegauf, M.1    Bryant, V.L.2    Frede, N.3    Slade, C.4    Woon, S.-T.5    Lehnert, K.6
  • 7
    • 84948581722 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015
    • Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J Clin Immunol. 2015; 35: 696–726.
    • (2015) J Clin Immunol , vol.35 , pp. 696-726
    • Picard, C.1    Al-Herz, W.2    Bousfiha, A.3    Casanova, J.L.4    Chatila, T.5    Conley, M.E.6
  • 8
    • 81055149155 scopus 로고    scopus 로고
    • The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: A case based review
    • Ameratunga R, Woon ST, Neas K, Love DR. The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. Allergy Asthma Clin Immunol 2010; 6: 12.
    • (2010) Allergy Asthma Clin Immunol , vol.6
    • Ameratunga, R.1    Woon, S.T.2    Neas, K.3    Love, D.R.4
  • 9
    • 82555179331 scopus 로고    scopus 로고
    • Primary immune deficiency disorders in the South Pacific: The clinical utility of a customized genetic testing program in New Zealand
    • Ameratunga R, Woon ST, Brewerton M, Koopmans W, Jordan A, Brothers S et al. Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand. Ann NY Acad Sci 2011; 1238: 53–64.
    • (2011) Ann NY Acad Sci , vol.1238 , pp. 53-64
    • Ameratunga, R.1    Woon, S.T.2    Brewerton, M.3    Koopmans, W.4    Jordan, A.5    Brothers, S.6
  • 10
    • 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 DL et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007; 39: 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
  • 12
    • 84876434414 scopus 로고    scopus 로고
    • Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI)
    • Koopmans W, Woon ST, Brooks AE, Dunbar PR, Browett P, Ameratunga R. Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). J Clin Immunol 2013; 33: 68–73.
    • (2013) J Clin Immunol , vol.33 , pp. 68-73
    • Koopmans, W.1    Woon, S.T.2    Brooks, A.E.3    Dunbar, P.R.4    Browett, P.5    Ameratunga, R.6
  • 13
    • 84863414591 scopus 로고
    • Discussion on the influence of heredity on disease, with special reference to tuberculosis, cancer, and diseases of the nervous system: Introductory address
    • Gen Rep
    • Bateson L. Discussion on the influence of heredity on disease, with special reference to tuberculosis, cancer, and diseases of the nervous system: introductory address. Proc R Soc Med 1909; 2(Gen Rep): 22–30.
    • (1909) Proc R Soc Med , vol.2 , pp. 22-30
    • Bateson, L.1
  • 14
    • 40149087235 scopus 로고    scopus 로고
    • Data and theory point to mainly additive genetic variance for complex traits
    • Hill WG, Goddard ME, Visscher PM. Data and theory point to mainly additive genetic variance for complex traits. PLoS Genet 2008; 4: e1000008.
    • (2008) Plos Genet , vol.4
    • Hill, W.G.1    Goddard, M.E.2    Visscher, P.M.3
  • 15
    • 84902009909 scopus 로고    scopus 로고
    • Why epistasis is important for tackling complex human disease genetics
    • Mackay TF, Moore JH. Why epistasis is important for tackling complex human disease genetics. Genome Med 2014; 6: 124.
    • (2014) Genome Med , vol.6 , pp. 124
    • Mackay, T.F.1    Moore, J.H.2
  • 16
    • 84890145395 scopus 로고    scopus 로고
    • Digenic inheritance in medical genetics
    • Schaffer AA. Digenic inheritance in medical genetics. J Med Genet 2013; 50: 641–652.
    • (2013) J Med Genet , vol.50 , pp. 641-652
    • Schaffer, A.A.1
  • 20
    • 84878607836 scopus 로고    scopus 로고
    • Treatment of hypogammaglobulinemia in adults: A scoring system to guide decisions on immunoglobulin replacement
    • Agarwal S, Cunningham-Rundles C. Treatment of hypogammaglobulinemia in adults: a scoring system to guide decisions on immunoglobulin replacement. J Allergy Clin Immunol 2013; 131: 1699–1701.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1699-1701
    • Agarwal, S.1    Cunningham-Rundles, C.2
  • 21
    • 84903178635 scopus 로고    scopus 로고
    • Functional redundancy between the transcriptional activation domains of E2A is mediated by binding to the KIX domain of CBP/p300
    • Denis CM, Langelaan DN, Kirlin AC, Chitayat S, Munro K, Spencer HL et al. Functional redundancy between the transcriptional activation domains of E2A is mediated by binding to the KIX domain of CBP/p300. Nucleic Acids Res 2014; 42: 7370–7382.
    • (2014) Nucleic Acids Res , vol.42 , pp. 7370-7382
    • Denis, C.M.1    Langelaan, D.N.2    Kirlin, A.C.3    Chitayat, S.4    Munro, K.5    Spencer, H.L.6
  • 22
    • 0027992622 scopus 로고
    • E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements
    • Bain G, Maandag EC, Izon DJ, Amsen D, Kruisbeek AM, Weintraub BC et al. E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. Cell 1994; 79: 885–892.
    • (1994) Cell , vol.79 , pp. 885-892
    • Bain, G.1    Maandag, E.C.2    Izon, D.J.3    Amsen, D.4    Kruisbeek, A.M.5    Weintraub, B.C.6
  • 23
    • 0033571526 scopus 로고    scopus 로고
    • E2A activity is induced during B-cell activation to promote immunoglobulin class switch recombination
    • Quong MW, Harris DP, Swain SL, Murre C. E2A activity is induced during B-cell activation to promote immunoglobulin class switch recombination. EMBO J 1999; 18: 6307–6318.
    • (1999) EMBO J , vol.18 , pp. 6307-6318
    • Quong, M.W.1    Harris, D.P.2    Swain, S.L.3    Murre, C.4
  • 24
    • 84881431022 scopus 로고    scopus 로고
    • Induction of activation-induced cytidine deaminase-targeting adaptor 14-3-3 gamma is mediated by NF-kappaBdependent recruitment of CFP1 to the 5'-CpG-3'-rich 14-3-3 gamma promoter and is sustained by E2A
    • Mai T, Pone EJ, Li G, Lam TS, Moehlman J, Xu Z et al. Induction of activation-induced cytidine deaminase-targeting adaptor 14-3-3 gamma is mediated by NF-kappaBdependent recruitment of CFP1 to the 5'-CpG-3'-rich 14-3-3 gamma promoter and is sustained by E2A. J immunol 2013; 191: 1895–1906.
    • (2013) J Immunol , vol.191 , pp. 1895-1906
    • Mai, T.1    Pone, E.J.2    Li, G.3    Lam, T.S.4    Moehlman, J.5    Xu, Z.6
  • 25
    • 77955921430 scopus 로고    scopus 로고
    • The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88
    • He B, Santamaria R, Xu W, Cols M, Chen K, Puga I et al. The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol 2010; 11: 836–845.
    • (2010) Nat Immunol , vol.11 , pp. 836-845
    • He, B.1    Santamaria, R.2    Xu, W.3    Cols, M.4    Chen, K.5    Puga, I.6
  • 26
    • 79955589621 scopus 로고    scopus 로고
    • The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice
    • Bacchelli C, Buckland KF, Buckridge S, Salzer U, Schneider P, Thrasher AJ et al. The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. J Allergy Clin Immunol 2011; 127: 1253–1259 e1213.
    • (2011) J Allergy Clin Immunol , vol.127 , pp. 1253-1259
    • Bacchelli, C.1    Buckland, K.F.2    Buckridge, S.3    Salzer, U.4    Schneider, P.5    Thrasher, A.J.6
  • 27
    • 38049101408 scopus 로고    scopus 로고
    • Cytokine-mediated regulation of human B cell differentiation into Ig-secreting cells: Predominant role of IL-21 produced by CXCR5+ T follicular helper cells
    • Bryant VL, Ma CS, Avery DT, Li Y, Good KL, Corcoran LM et al. Cytokine-mediated regulation of human B cell differentiation into Ig-secreting cells: predominant role of IL-21 produced by CXCR5+ T follicular helper cells. J immunol 2007; 179: 8180–8190.
    • (2007) J Immunol , vol.179 , pp. 8180-8190
    • Bryant, V.L.1    Ma, C.S.2    Avery, D.T.3    Li, Y.4    Good, K.L.5    Corcoran, L.M.6
  • 28
    • 49649120932 scopus 로고    scopus 로고
    • IL-21-induced isotype switching to IgG and IgA by human naive B cells is differentially regulated by IL-4
    • Avery DT, Bryant VL, Ma CS, de Waal Malefyt R, Tangye SG. IL-21-induced isotype switching to IgG and IgA by human naive B cells is differentially regulated by IL-4. J Immunol 2008; 181: 1767–1779.
    • (2008) J Immunol , vol.181 , pp. 1767-1779
    • Avery, D.T.1    Bryant, V.L.2    Ma, C.S.3    de Waal Malefyt, R.4    Tangye, S.G.5
  • 29
    • 4043108358 scopus 로고    scopus 로고
    • Divide and conquer: The importance of cell division in regulating B-cell responses
    • Tangye SG, Hodgkin PD. Divide and conquer: the importance of cell division in regulating B-cell responses. Immunology 2004; 112: 509–520.
    • (2004) Immunology , vol.112 , pp. 509-520
    • Tangye, S.G.1    Hodgkin, P.D.2
  • 30
    • 0030037519 scopus 로고    scopus 로고
    • B cell differentiation and isotype switching is related to division cycle number
    • Hodgkin PD, Lee JH, Lyons AB. B cell differentiation and isotype switching is related to division cycle number. J Exp Med 1996; 184: 277–281.
    • (1996) J Exp Med , vol.184 , pp. 277-281
    • Hodgkin, P.D.1    Lee, J.H.2    Lyons, A.B.3
  • 31
    • 11244293921 scopus 로고    scopus 로고
    • A global view of epistasis
    • Moore JH. A global view of epistasis. Nat Genet 2005; 37: 13–14.
    • (2005) Nat Genet , vol.37 , pp. 13-14
    • Moore, J.H.1
  • 32
    • 84880391500 scopus 로고    scopus 로고
    • The genetics of infectious disease susceptibility: Has the evidence for epistasis been overestimated?
    • Hall MD, Ebert D. The genetics of infectious disease susceptibility: has the evidence for epistasis been overestimated? BMC Biol 2013; 11: 79.
    • (2013) BMC Biol , vol.11
    • Hall, M.D.1    Ebert, D.2
  • 33
    • 84994626504 scopus 로고    scopus 로고
    • Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
    • Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E et al. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest 2016; 126: 4219–4236.
    • (2016) J Clin Invest , vol.126 , pp. 4219-4236
    • Massaad, M.J.1    Zhou, J.2    Tsuchimoto, D.3    Chou, J.4    Jabara, H.5    Janssen, E.6
  • 35
    • 84887418439 scopus 로고    scopus 로고
    • A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(−) B cells
    • Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T et al. A recurrent dominant negative E47 mutation causes agammaglobuline) B cells. J clin invest 2013; 123: 4781–4785.
    • (2013) J Clin Invest , vol.123 , pp. 4781-4785
    • Boisson, B.1    Wang, Y.D.2    Bosompem, A.3    Ma, C.S.4    Lim, A.5    Kochetkov, T.6
  • 36
    • 84938219858 scopus 로고    scopus 로고
    • Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
    • van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B, Lucas M et al. Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders. Clin Immunol 2015; 160: 301–314.
    • (2015) Clin Immunol , vol.160 , pp. 301-314
    • van Schouwenburg, P.A.1    Davenport, E.E.2    Kienzler, A.K.3    Marwah, I.4    Wright, B.5    Lucas, M.6
  • 37
    • 84935897991 scopus 로고    scopus 로고
    • Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naive-to-memory B-cell transition
    • Rodriguez-Cortez VC, Del Pino-Molina L, Rodriguez-Ubreva J, Ciudad L, Gomez-Cabrero D, Company C et al. Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naive-to-memory B-cell transition. Nat Commun 2015; 6: 7335.
    • (2015) Nat Commun , vol.6
    • Rodriguez-Cortez, V.C.1    Del Pino-Molina, L.2    Rodriguez-Ubreva, J.3    Ciudad, L.4    Gomez-Cabrero, D.5    Company, C.6
  • 38
    • 84887847120 scopus 로고    scopus 로고
    • Early B-cell factor 1 regulates the expansion of B-cell progenitors in a dose-dependent manner
    • Ahsberg J, Ungerback J, Strid T, Welinder E, Stjernberg J, Larsson M et al. Early B-cell factor 1 regulates the expansion of B-cell progenitors in a dose-dependent manner. J Biol Chem 2013; 288: 33449–33461.
    • (2013) J Biol Chem , vol.288 , pp. 33449-33461
    • Ahsberg, J.1    Ungerback, J.2    Strid, T.3    Welinder, E.4    Stjernberg, J.5    Larsson, M.6
  • 39
    • 84860373992 scopus 로고    scopus 로고
    • Expression of essential B cell development genes in horses with common variable immunodeficiency
    • Tallmadge RL, Such KA, Miller KC, Matychak MB, Felippe MJ. Expression of essential B cell development genes in horses with common variable immunodeficiency. Mol Immunol 2012; 51: 169–176.
    • (2012) Mol Immunol , vol.51 , pp. 169-176
    • Tallmadge, R.L.1    Such, K.A.2    Miller, K.C.3    Matychak, M.B.4    Felippe, M.J.5
  • 40
    • 34249909831 scopus 로고    scopus 로고
    • Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)
    • Garibyan L, Lobito AA, Siegel RM, Call ME, Wucherpfennig KW, Geha RS. Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J Clin Invest 2007; 117: 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
  • 41
    • 61849167388 scopus 로고    scopus 로고
    • Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
    • Salzer U, Bacchelli C, Buckridge S, Pan-Hammarstrom Q, Jennings S, Lougaris V et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood 2009; 113: 1967–1976.
    • (2009) Blood , vol.113 , pp. 1967-1976
    • Salzer, U.1    Bacchelli, C.2    Buckridge, S.3    Pan-Hammarstrom, Q.4    Jennings, S.5    Lougaris, V.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.