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Volumn 12, Issue 6, 2013, Pages 687-689

Chipping away at a mountain: Genomic studies in common variable immunodeficiency

Author keywords

Genome; Immunodeficiency; Immunoglobulin

Indexed keywords

TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

EID: 84877031255     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2012.10.017     Document Type: Review
Times cited : (22)

References (36)
  • 1
    • 34548233320 scopus 로고    scopus 로고
    • Population prevalence of diagnosed primary immunodeficiency diseases in the United States
    • Sep
    • Boyle J.M., Buckley R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol Sep 2007, 27(5):497-502.
    • (2007) J Clin Immunol , vol.27 , Issue.5 , pp. 497-502
    • Boyle, J.M.1    Buckley, R.H.2
  • 2
    • 84857728047 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
    • Al-Herz W., Bousfiha A., Casanova J.L., Chapel H., Conley M.E., Cunningham-Rundles C., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2011, 2:54.
    • (2011) Front Immunol , vol.2 , pp. 54
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3    Chapel, H.4    Conley, M.E.5    Cunningham-Rundles, C.6
  • 3
    • 67651004925 scopus 로고    scopus 로고
    • Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections
    • Jul
    • Fried A.J., Bonilla F.A. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev Jul 2009, 22(3):396-414.
    • (2009) Clin Microbiol Rev , vol.22 , Issue.3 , pp. 396-414
    • Fried, A.J.1    Bonilla, F.A.2
  • 4
    • 84865393075 scopus 로고    scopus 로고
    • Intravenous immunoglobulin: Exploiting the potential of natural antibodies
    • Sep
    • Kaveri S.V. Intravenous immunoglobulin: Exploiting the potential of natural antibodies. Autoimmun Rev Sep 2012, 11(11):792-794.
    • (2012) Autoimmun Rev , vol.11 , Issue.11 , pp. 792-794
    • Kaveri, S.V.1
  • 5
    • 77955889852 scopus 로고    scopus 로고
    • How I, treat common variable immune deficiency
    • Jul 8
    • Cunningham-Rundles C. How I, treat common variable immune deficiency. Blood Jul 8 2010, 116(1):7-15.
    • (2010) Blood , vol.116 , Issue.1 , pp. 7-15
    • Cunningham-Rundles, C.1
  • 6
    • 77951819817 scopus 로고    scopus 로고
    • Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID)
    • May
    • Schuetz C., Niehues T., Friedrich W., Schwarz K. Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID). Autoimmun Rev May 2010, 9(7):477-482.
    • (2010) Autoimmun Rev , vol.9 , Issue.7 , pp. 477-482
    • Schuetz, C.1    Niehues, T.2    Friedrich, W.3    Schwarz, K.4
  • 7
    • 0036224043 scopus 로고    scopus 로고
    • Primary immunodeficiency disorders: antibody deficiency
    • Apr
    • Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol Apr 2002, 109(4):581-591.
    • (2002) J Allergy Clin Immunol , vol.109 , Issue.4 , pp. 581-591
    • Ballow, M.1
  • 9
    • 42049084134 scopus 로고    scopus 로고
    • Common variable immunodeficiency: an update on etiology and management
    • [ix-x] May
    • Yong P.F., Tarzi M., Chua I., Grimbacher B., Chee R. Common variable immunodeficiency: an update on etiology and management. Immunol Allergy Clin North Am May 2008, 28(2):367-386. [ix-x].
    • (2008) Immunol Allergy Clin North Am , vol.28 , Issue.2 , pp. 367-386
    • Yong, P.F.1    Tarzi, M.2    Chua, I.3    Grimbacher, B.4    Chee, R.5
  • 10
    • 84857467014 scopus 로고    scopus 로고
    • Morbidity and mortality in common variable immune deficiency over 4 decades
    • Feb 16
    • Resnick E.S., Moshier E.L., Godbold J.H., Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood Feb 16 2012, 119(7):1650-1657.
    • (2012) Blood , vol.119 , Issue.7 , pp. 1650-1657
    • Resnick, E.S.1    Moshier, E.L.2    Godbold, J.H.3    Cunningham-Rundles, C.4
  • 11
    • 77952741985 scopus 로고    scopus 로고
    • Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years
    • [e1354]Jun
    • Lucas M., Lee M., Lortan J., Lopez-Granados E., Misbah S., Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol Jun 2010, 125(6):1354-1360. [e1354].
    • (2010) J Allergy Clin Immunol , vol.125 , Issue.6 , pp. 1354-1360
    • Lucas, M.1    Lee, M.2    Lortan, J.3    Lopez-Granados, E.4    Misbah, S.5    Chapel, H.6
  • 12
    • 38049105639 scopus 로고    scopus 로고
    • The EUROclass trial: defining subgroups in common variable immunodeficiency
    • Jan 1
    • Wehr C., Kivioja T., Schmitt C., Ferry B., Witte T., Eren E., et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood Jan 1 2008, 111(1):77-85.
    • (2008) Blood , vol.111 , Issue.1 , pp. 77-85
    • Wehr, C.1    Kivioja, T.2    Schmitt, C.3    Ferry, B.4    Witte, T.5    Eren, E.6
  • 13
    • 84862941706 scopus 로고    scopus 로고
    • Utility of peripheral blood B cell subsets analysis in common variable immunodeficiency
    • Feb
    • Al Kindi M., Mundy J., Sullivan T., Smith W., Kette F., Smith A., et al. Utility of peripheral blood B cell subsets analysis in common variable immunodeficiency. Clin Exp Immunol Feb 2012, 167(2):275-281.
    • (2012) Clin Exp Immunol , vol.167 , Issue.2 , pp. 275-281
    • Al Kindi, M.1    Mundy, J.2    Sullivan, T.3    Smith, W.4    Kette, F.5    Smith, A.6
  • 14
    • 77954937472 scopus 로고    scopus 로고
    • Pediatric common variable immunodeficiency: immunologic and phenotypic associations with switched memory B cells
    • Aug
    • Yong P.L., Orange J.S., Sullivan K.E. Pediatric common variable immunodeficiency: immunologic and phenotypic associations with switched memory B cells. Pediatr Allergy Immunol Aug 2010, 21(5):852-858.
    • (2010) Pediatr Allergy Immunol , vol.21 , Issue.5 , pp. 852-858
    • Yong, P.L.1    Orange, J.S.2    Sullivan, K.E.3
  • 15
    • 0037340349 scopus 로고    scopus 로고
    • Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
    • Mar
    • 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 Mar 2003, 4(3):261-268.
    • (2003) Nat Immunol , vol.4 , Issue.3 , pp. 261-268
    • Grimbacher, B.1    Hutloff, A.2    Schlesier, M.3    Glocker, E.4    Warnatz, K.5    Drager, R.6
  • 16
    • 74949085764 scopus 로고    scopus 로고
    • CD20 deficiency in humans results in impaired T cell-independent antibody responses
    • Jan
    • Kuijpers T.W., Bende R.J., Baars P.A., Grummels A., Derks I.A., Dolman K.M., et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest Jan 2010, 120(1):214-222.
    • (2010) J Clin Invest , vol.120 , Issue.1 , pp. 214-222
    • Kuijpers, T.W.1    Bende, R.J.2    Baars, P.A.3    Grummels, A.4    Derks, I.A.5    Dolman, K.M.6
  • 17
    • 84863030888 scopus 로고    scopus 로고
    • Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
    • Jan 26
    • Ombrello M.J., Remmers E.F., Sun G., Freeman A.F., Datta S., Torabi-Parizi P., et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med Jan 26 2012, 366(4):330-338.
    • (2012) N Engl J Med , vol.366 , Issue.4 , pp. 330-338
    • Ombrello, M.J.1    Remmers, E.F.2    Sun, G.3    Freeman, A.F.4    Datta, S.5    Torabi-Parizi, P.6
  • 20
    • 77951146803 scopus 로고    scopus 로고
    • CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
    • Apr
    • van Zelm M.C., 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 Apr 2010, 120(4):1265-1274.
    • (2010) J Clin Invest , vol.120 , Issue.4 , pp. 1265-1274
    • van Zelm, M.C.1    Smet, J.2    Adams, B.3    Mascart, F.4    Schandene, L.5    Janssen, F.6
  • 21
    • 69549128384 scopus 로고    scopus 로고
    • B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans
    • Aug 18
    • Warnatz K., Salzer U., Rizzi M., Fischer B., Gutenberger S., Bohm M., et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A Aug 18 2009, 106(33):13945-13950.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.33 , pp. 13945-13950
    • Warnatz, K.1    Salzer, U.2    Rizzi, M.3    Fischer, B.4    Gutenberger, S.5    Bohm, M.6
  • 23
    • 34047107195 scopus 로고    scopus 로고
    • Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
    • Apr
    • 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 Apr 2007, 39(4):429-430.
    • (2007) Nat Genet , vol.39 , Issue.4 , pp. 429-430
    • Pan-Hammarstrom, Q.1    Salzer, U.2    Du, L.3    Bjorkander, J.4    Cunningham-Rundles, C.5    Nelson, D.L.6
  • 24
    • 79957874121 scopus 로고    scopus 로고
    • Genome-wide association identifies diverse causes of common variable immunodeficiency
    • [e1366]Jun
    • Orange J.S., Glessner J.T., Resnick E., Sullivan K.E., Lucas M., Ferry B., et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol Jun 2011, 127(6):1360-1367. [e1366].
    • (2011) J Allergy Clin Immunol , vol.127 , Issue.6 , pp. 1360-1367
    • Orange, J.S.1    Glessner, J.T.2    Resnick, E.3    Sullivan, K.E.4    Lucas, M.5    Ferry, B.6
  • 25
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • Oct 18
    • Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature Oct 18 2007, 449(7164):851-861.
    • (2007) Nature , vol.449 , Issue.7164 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3    Hinds, D.A.4    Stuve, L.L.5    Gibbs, R.A.6
  • 26
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Nov
    • Wang K., Li M., Hadley D., Liu R., Glessner J., Grant S.F., et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res Nov 2007, 17(11):1665-1674.
    • (2007) Genome Res , vol.17 , Issue.11 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.6
  • 27
    • 0035800873 scopus 로고    scopus 로고
    • Architecture of the human origin recognition complex
    • Aug 3
    • Dhar S.K., Delmolino L., Dutta A. Architecture of the human origin recognition complex. J Biol Chem Aug 3 2001, 276(31):29067-29071.
    • (2001) J Biol Chem , vol.276 , Issue.31 , pp. 29067-29071
    • Dhar, S.K.1    Delmolino, L.2    Dutta, A.3
  • 29
    • 79953203480 scopus 로고    scopus 로고
    • Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
    • Apr
    • Guernsey D.L., Matsuoka M., Jiang H., Evans S., Macgillivray C., Nightengale M., et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet Apr 2011, 43(4):360-364.
    • (2011) Nat Genet , vol.43 , Issue.4 , pp. 360-364
    • Guernsey, D.L.1    Matsuoka, M.2    Jiang, H.3    Evans, S.4    Macgillivray, C.5    Nightengale, M.6
  • 30
    • 43049160721 scopus 로고    scopus 로고
    • Chromosomal radiosensitivity in patients with common variable immunodeficiency
    • Aghamohammadi A., Moin M., Kouhi A., Mohagheghi M.A., Shirazi A., Rezaei N., et al. Chromosomal radiosensitivity in patients with common variable immunodeficiency. Immunobiology 2008, 213(5):447-454.
    • (2008) Immunobiology , vol.213 , Issue.5 , pp. 447-454
    • Aghamohammadi, A.1    Moin, M.2    Kouhi, A.3    Mohagheghi, M.A.4    Shirazi, A.5    Rezaei, N.6
  • 32
    • 84861600304 scopus 로고    scopus 로고
    • Computer-aided diagnosis for dynamic contrast-enhanced breast MRI of mass-like lesions using a multiparametric model combining a selection of morphological, kinetic, and spatiotemporal features
    • Apr
    • Agliozzo S., De Luca M., Bracco C., Vignati A., Giannini V., Martincich L., et al. Computer-aided diagnosis for dynamic contrast-enhanced breast MRI of mass-like lesions using a multiparametric model combining a selection of morphological, kinetic, and spatiotemporal features. Med Phys Apr 2012, 39(4):1704-1715.
    • (2012) Med Phys , vol.39 , Issue.4 , pp. 1704-1715
    • Agliozzo, S.1    De Luca, M.2    Bracco, C.3    Vignati, A.4    Giannini, V.5    Martincich, L.6
  • 34
    • 84857000430 scopus 로고    scopus 로고
    • Using Support Vector Machine to identify imaging biomarkers of neurological and psychiatric disease: a critical review
    • Orru G., Pettersson-Yeo W., Marquand A.F., Sartori G., Mechelli A. Using Support Vector Machine to identify imaging biomarkers of neurological and psychiatric disease: a critical review. Neurosci Biobehav Rev Apr 2012, 36(4):1140-1152.
    • (2012) Neurosci Biobehav Rev , vol.36 , Issue.4 , pp. 1140-1152
    • Orru, G.1    Pettersson-Yeo, W.2    Marquand, A.F.3    Sartori, G.4    Mechelli, A.5
  • 36
    • 80052830541 scopus 로고    scopus 로고
    • Comparison of solution-based exome capture methods for next generation sequencing
    • Sulonen A.M., Ellonen P., Almusa H., Lepisto M., Eldfors S., Hannula S., et al. Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 2011, 12(9):R94.
    • (2011) Genome Biol , vol.12 , Issue.9
    • Sulonen, A.M.1    Ellonen, P.2    Almusa, H.3    Lepisto, M.4    Eldfors, S.5    Hannula, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.