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Volumn 1238, Issue 1, 2011, Pages 7-14

Ten warning signs of primary immunodeficiency: A new paradigm is needed for the 21st century

Author keywords

Atopic dermatitis; Autoimmunity; Cancer; Family history; Primary immunodeficiency

Indexed keywords

TRANSCRIPTION FACTOR FOXP3;

EID: 82555179335     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2011.06206.x     Document Type: Review
Times cited : (113)

References (50)
  • 1
    • 0001708115 scopus 로고
    • Chemical, clinical, and immunological studies on the products of human plasma fractionation. I. The characterization of the protein fractions of human plasma
    • Cohn, E.J., J.L. Oncley, L.E. Strong, et al. 1944. Chemical, clinical, and immunological studies on the products of human plasma fractionation. I. The characterization of the protein fractions of human plasma. J. Clin. Invest. 23: 417-432.
    • (1944) J. Clin. Invest. , vol.23 , pp. 417-432
    • Cohn, E.J.1    Oncley, J.L.2    Strong, L.E.3
  • 2
    • 25844494122 scopus 로고    scopus 로고
    • Charles A. Janeway and Fred S. Rosen: the discovery of gamma globulin therapy and primary immunodeficiency diseases at Boston Children's Hospital
    • Geha, R.S. 2005. Charles A. Janeway and Fred S. Rosen: the discovery of gamma globulin therapy and primary immunodeficiency diseases at Boston Children's Hospital. J. Allergy Clin. Immunol. 116: 937-940.
    • (2005) J. Allergy Clin. Immunol. , vol.116 , pp. 937-940
    • Geha, R.S.1
  • 3
    • 84961050634 scopus 로고
    • The fate of lethally irradiated mice given isologous and heterologous thoracic duct lymphocytes
    • Gesner, B.M. & J.L. Gowans. 1962. The fate of lethally irradiated mice given isologous and heterologous thoracic duct lymphocytes. Br. J. Exp. Pathol. 43: 431-440.
    • (1962) Br. J. Exp. Pathol. , vol.43 , pp. 431-440
    • Gesner, B.M.1    Gowans, J.L.2
  • 4
    • 70449140148 scopus 로고
    • A fatal granulomatosus of childhood: the clinical study of a new syndrome
    • Berendes, H., R.A. Bridges & R.A. Good. 1957. A fatal granulomatosus of childhood: the clinical study of a new syndrome. Minn. Med. 40: 309-312.
    • (1957) Minn. Med. , vol.40 , pp. 309-312
    • Berendes, H.1    Bridges, R.A.2    Good, R.A.3
  • 5
    • 0037921308 scopus 로고
    • Alymphocytosis
    • Donohue, W.L. 1953. Alymphocytosis. Pediatrics 11: 129-139.
    • (1953) Pediatrics , vol.11 , pp. 129-139
    • Donohue, W.L.1
  • 6
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • Aldrich, R.A., A.G. Steinberg & D.C. Campbell. 1954. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13: 133-139.
    • (1954) Pediatrics , vol.13 , pp. 133-139
    • Aldrich, R.A.1    Steinberg, A.G.2    Campbell, D.C.3
  • 7
    • 78651059120 scopus 로고
    • Agammaglobulinemia (congenital absence of gamma globulin); report of a case
    • Bruton, O.C. 1953. Agammaglobulinemia (congenital absence of gamma globulin); report of a case. Med. Ann. Dist. Columbia. 22: 648-650.
    • (1953) Med. Ann. Dist. Columbia. , vol.22 , pp. 648-650
    • Bruton, O.C.1
  • 8
    • 0002920787 scopus 로고
    • Irradiation of the entire body and marrow transplantation: some observations and comments
    • Thomas, E.D., H.L. Lochte & J.W. Ferrebee. 1959. Irradiation of the entire body and marrow transplantation: some observations and comments. Blood 14: 1-23.
    • (1959) Blood , vol.14 , pp. 1-23
    • Thomas, E.D.1    Lochte, H.L.2    Ferrebee, J.W.3
  • 9
    • 0032976666 scopus 로고    scopus 로고
    • Common variable immunodeficiency: clinical and immunological features of 248 patients
    • Cunningham-Rundles, C. & C. Bodian. 1999. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92: 34-48.
    • (1999) Clin. Immunol. , vol.92 , pp. 34-48
    • Cunningham-Rundles, C.1    Bodian, C.2
  • 10
    • 0036750697 scopus 로고    scopus 로고
    • Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study
    • Plebani, A., A. Soresina, R. Rondelli, et al. 2002. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin. Immunol. 104: 221-230.
    • (2002) Clin. Immunol. , vol.104 , pp. 221-230
    • Plebani, A.1    Soresina, A.2    Rondelli, R.3
  • 11
    • 33746286879 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: a report on a United States registry of 201 patients
    • Winkelstein, J.A., M.C. Marino, H.M. Lederman, et al. 2006. X-linked agammaglobulinemia: a report on a United States registry of 201 patients. Medicine 85: 193-202.
    • (2006) Medicine , vol.85 , pp. 193-202
    • Winkelstein, J.A.1    Marino, M.C.2    Lederman, H.M.3
  • 12
    • 67649126269 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: the J Project
    • Marodi, L. & J.L. Casanova. 2009. Primary immunodeficiency diseases: the J Project. Lancet 373: 2179-2181.
    • (2009) Lancet , vol.373 , pp. 2179-2181
    • Marodi, L.1    Casanova, J.L.2
  • 13
    • 70449374931 scopus 로고    scopus 로고
    • Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes
    • Marodi, L. & J.L. Casanova. 2009. Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes. J. Intern. Med. 266: 502-506.
    • (2009) J. Intern. Med. , vol.266 , pp. 502-506
    • Marodi, L.1    Casanova, J.L.2
  • 14
    • 0026092596 scopus 로고
    • Primary antibody deficiency in adults
    • Spickett, G.P., S.A. Misbah & H.M. Chapel. 1991. Primary antibody deficiency in adults. Lancet 337: 281-284.
    • (1991) Lancet , vol.337 , pp. 281-284
    • Spickett, G.P.1    Misbah, S.A.2    Chapel, H.M.3
  • 15
    • 79955505659 scopus 로고    scopus 로고
    • Clinical features that identify children with primary immunodeficiency diseases
    • Subbarayan, A., G. Colarusso, S.M. Hughes, et al. 2011. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics 127: 810-816.
    • (2011) Pediatrics , vol.127 , pp. 810-816
    • Subbarayan, A.1    Colarusso, G.2    Hughes, S.M.3
  • 16
    • 78649358887 scopus 로고    scopus 로고
    • Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency
    • Picard, C., H. von Bernuth, P. Ghandil, et al. 2010. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine 89: 403-425.
    • (2010) Medicine , vol.89 , pp. 403-425
    • Picard, C.1    von Bernuth, H.2    Ghandil, P.3
  • 17
    • 35948931788 scopus 로고    scopus 로고
    • Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans
    • Sancho-Shimizu, V., S.Y. Zhang, L. Abel, et al. 2007. Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. Curr. Opin. Allergy Clin. Immunol. 7: 495-505.
    • (2007) Curr. Opin. Allergy Clin. Immunol. , vol.7 , pp. 495-505
    • Sancho-Shimizu, V.1    Zhang, S.Y.2    Abel, L.3
  • 18
    • 79953061608 scopus 로고    scopus 로고
    • Human TLRs and IL-1Rs in host defence: natural insights from evolutionary, epidemiological, and clinical genetics
    • Casanova, J.L., L. Abel & L. Quintana-Murci. 2011. Human TLRs and IL-1Rs in host defence: natural insights from evolutionary, epidemiological, and clinical genetics. Annu. Rev. Immunol. 29: 447-491.
    • (2011) Annu. Rev. Immunol. , vol.29 , pp. 447-491
    • Casanova, J.L.1    Abel, L.2    Quintana-Murci, L.3
  • 19
    • 34547732069 scopus 로고    scopus 로고
    • Primary immunodeficiencies: a field in its infancy
    • Casanova, J.L. & L. Abel. 2007. Primary immunodeficiencies: a field in its infancy. Science 317: 617-619.
    • (2007) Science , vol.317 , pp. 617-619
    • Casanova, J.L.1    Abel, L.2
  • 20
    • 0036207435 scopus 로고    scopus 로고
    • Investigation for complement deficiency following meningococcal disease
    • Hoare, S., O. El-Shazali, J.E. Clark, et al. 2002. Investigation for complement deficiency following meningococcal disease. Arch. Dis. Child. 86: 215-217.
    • (2002) Arch. Dis. Child. , vol.86 , pp. 215-217
    • Hoare, S.1    El-Shazali, O.2    Clark, J.E.3
  • 21
    • 68049116664 scopus 로고    scopus 로고
    • Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes
    • Pessach, I., J. Walter & L.D. Notarangelo. 2009. Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes. Pediatr. Res. 65: 3R-12R.
    • (2009) Pediatr. Res. , vol.65
    • Pessach, I.1    Walter, J.2    Notarangelo, L.D.3
  • 22
    • 77951037259 scopus 로고    scopus 로고
    • Primary immunodeficiency and autoimmunity: lessons from human diseases
    • Arason, G.J., G.H. Jorgensen & B.R. Ludviksson. 2010. Primary immunodeficiency and autoimmunity: lessons from human diseases. Scand. J. Immunol. 71: 317-328.
    • (2010) Scand. J. Immunol. , vol.71 , pp. 317-328
    • Arason, G.J.1    Jorgensen, G.H.2    Ludviksson, B.R.3
  • 23
    • 37149022518 scopus 로고    scopus 로고
    • Human primary immunodeficiency diseases
    • Fischer, A. 2007. Human primary immunodeficiency diseases. Immunity 27: 835-845.
    • (2007) Immunity , vol.27 , pp. 835-845
    • Fischer, A.1
  • 24
    • 0035167967 scopus 로고    scopus 로고
    • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    • Bennett, C.L., J. Christie, F. Ramsdell, et al. 2001. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27: 20-21.
    • (2001) Nat. Genet. , vol.27 , pp. 20-21
    • Bennett, C.L.1    Christie, J.2    Ramsdell, F.3
  • 25
    • 0034040532 scopus 로고    scopus 로고
    • Chronic granulomatous disease. Report on a national registry of 368 patients
    • Winkelstein, J.A., M.C. Marino, R.B. Johnston, Jr., et al. 2000. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 79: 155-169.
    • (2000) Medicine , vol.79 , pp. 155-169
    • Winkelstein, J.A.1    Marino, M.C.2    Johnston Jr., R.B.3
  • 26
    • 35748931764 scopus 로고    scopus 로고
    • Genetics and new treatment modalities for familial Mediterranean fever
    • Bhat, A., S.M. Naguwa & M.E. Gershwin. 2007. Genetics and new treatment modalities for familial Mediterranean fever. Ann. N.Y. Acad. Sci. 1110: 201-208.
    • (2007) Ann. N.Y. Acad. Sci , vol.1110 , pp. 201-208
    • Bhat, A.1    Naguwa, S.M.2    Gershwin, M.E.3
  • 27
    • 78650000871 scopus 로고    scopus 로고
    • X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma
    • Rezaei, N., E. Mahmoudi, A. Aghamohammadi, et al. 2011. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br. J. Haematol. 152: 13-30.
    • (2011) Br. J. Haematol. , vol.152 , pp. 13-30
    • Rezaei, N.1    Mahmoudi, E.2    Aghamohammadi, A.3
  • 28
    • 66449085077 scopus 로고    scopus 로고
    • Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation
    • Huck, K., O. Feyen, T. Niehues, et al. 2009. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J. Clin. Invest. 119: 1350-1358.
    • (2009) J. Clin. Invest. , vol.119 , pp. 1350-1358
    • Huck, K.1    Feyen, O.2    Niehues, T.3
  • 29
  • 30
    • 0000770165 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome
    • The International Nijmegen Breakage Syndrome Study Group
    • The International Nijmegen Breakage Syndrome Study Group. 2000. Nijmegen breakage syndrome. Arch. Dis. Child. 82: 400-406.
    • (2000) Arch. Dis. Child. , vol.82 , pp. 400-406
  • 31
    • 58149355307 scopus 로고    scopus 로고
    • Atopic dermatitis: a disease caused by innate immune defects?
    • De Benedetto, A., R. Agnihothri, L.Y. McGirt, et al. 2009. Atopic dermatitis: a disease caused by innate immune defects? J. Invest. Dermatol. 129: 14-30.
    • (2009) J. Invest. Dermatol. , vol.129 , pp. 14-30
    • De Benedetto, A.1    Agnihothri, R.2    McGirt, L.Y.3
  • 33
    • 77649243897 scopus 로고    scopus 로고
    • The role of keratinocytes in defense against infection
    • Schroder, J.M. 2010. The role of keratinocytes in defense against infection. Curr. Opin. Infect. Dis. 23: 106-110.
    • (2010) Curr. Opin. Infect. Dis. , vol.23 , pp. 106-110
    • Schroder, J.M.1
  • 34
    • 79953756066 scopus 로고    scopus 로고
    • Dendritic cells and airway epithelial cells at the interface between innate and adaptive immune responses
    • Hammad, H. & B.N. Lambrecht. 2011. Dendritic cells and airway epithelial cells at the interface between innate and adaptive immune responses. Allergy 66: 579-587.
    • (2011) Allergy , vol.66 , pp. 579-587
    • Hammad, H.1    Lambrecht, B.N.2
  • 35
    • 33344455022 scopus 로고    scopus 로고
    • Thymic stromal lymphopoietin: master switch for allergic inflammation
    • Liu, Y.J. 2006. Thymic stromal lymphopoietin: master switch for allergic inflammation. J. Exp. Med. 203: 269-273.
    • (2006) J. Exp. Med. , vol.203 , pp. 269-273
    • Liu, Y.J.1
  • 36
    • 77949784970 scopus 로고    scopus 로고
    • Sensing the outside world: TSLP regulates barrier immunity
    • Ziegler, S.F. & D. Artis. 2010. Sensing the outside world: TSLP regulates barrier immunity. Nat. Immunol. 11: 289-293.
    • (2010) Nat. Immunol. , vol.11 , pp. 289-293
    • Ziegler, S.F.1    Artis, D.2
  • 37
    • 33645129371 scopus 로고    scopus 로고
    • The role of microorganisms in atopic dermatitis
    • Baker, B.S. 2006. The role of microorganisms in atopic dermatitis. Clin. Exp. Immunol. 144: 1-9.
    • (2006) Clin. Exp. Immunol. , vol.144 , pp. 1-9
    • Baker, B.S.1
  • 38
    • 33645399288 scopus 로고    scopus 로고
    • Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    • Palmer, C.N., A.D. Irvine, A. Terron-Kwiatkowski, et al. 2006. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat. Genet. 38: 441-446.
    • (2006) Nat. Genet. , vol.38 , pp. 441-446
    • Palmer, C.N.1    Irvine, A.D.2    Terron-Kwiatkowski, A.3
  • 40
    • 77953986722 scopus 로고    scopus 로고
    • Filaggrin null mutations increase the risk and persistence of hand eczema in subjects with atopic dermatitis: results from a general population study
    • Thyssen, J.P., B.C. Carlsen, T. Menné, et al. 2010. Filaggrin null mutations increase the risk and persistence of hand eczema in subjects with atopic dermatitis: results from a general population study. Br. J. Dermatol. 163: 115-120.
    • (2010) Br. J. Dermatol. , vol.163 , pp. 115-120
    • Thyssen, J.P.1    Carlsen, B.C.2    Menné, T.3
  • 41
    • 42749094080 scopus 로고    scopus 로고
    • Filaggrin mutations, atopic eczema, hay fever, and asthma in children
    • Weidinger, S., M. O'Sullivan, T. Illig, et al. 2008. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J. Allergy Clin. Immunol. 121: 1203-1209.
    • (2008) J. Allergy Clin. Immunol. , vol.121 , pp. 1203-1209
    • Weidinger, S.1    O'Sullivan, M.2    Illig, T.3
  • 42
    • 69249148345 scopus 로고    scopus 로고
    • Cytokine modulation of atopic dermatitis filaggrin skin expression
    • Howell, M.D., B.E. Kim, P. Gao, et al. 2009. Cytokine modulation of atopic dermatitis filaggrin skin expression. J. Allergy Clin. Immunol. 124(Suppl. 2): R7-R12.
    • (2009) J. Allergy Clin. Immunol. , vol.124 , Issue.SUPPL. 2
    • Howell, M.D.1    Kim, B.E.2    Gao, P.3
  • 43
    • 69349102719 scopus 로고    scopus 로고
    • Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum
    • Gao, P.S., N.M. Rafaels, T. Hand, et al. 2009. Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J. Allergy Clin. Immunol. 124: 507-513.
    • (2009) J. Allergy Clin. Immunol. , vol.124 , pp. 507-513
    • Gao, P.S.1    Rafaels, N.M.2    Hand, T.3
  • 44
    • 33846256163 scopus 로고    scopus 로고
    • Primary immunodeficiency syndromes associated with defective DNA double-strand break repair
    • Gennery, A.R. 2006. Primary immunodeficiency syndromes associated with defective DNA double-strand break repair. Br. Med. Bull. 77-78: 71-85.
    • (2006) Br. Med. Bull. , vol.77-78 , pp. 71-85
    • Gennery, A.R.1
  • 45
    • 22344448904 scopus 로고    scopus 로고
    • Strategies for the prevention of hereditary diseases in a highly consanguineous population
    • Meyer, B.F. 2005. Strategies for the prevention of hereditary diseases in a highly consanguineous population. Ann. Hum. Biol. 32: 174-179.
    • (2005) Ann. Hum. Biol. , vol.32 , pp. 174-179
    • Meyer, B.F.1
  • 46
    • 68949212294 scopus 로고    scopus 로고
    • Population programs for the detection of couples at risk for severe monogenic genetic diseases
    • Zlotogora, J. 2009. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum. Genet. 126: 247-253.
    • (2009) Hum. Genet. , vol.126 , pp. 247-253
    • Zlotogora, J.1
  • 47
    • 49449089496 scopus 로고    scopus 로고
    • A community genetics perspective on consanguineous marriage
    • Bittles, A.H. 2008. A community genetics perspective on consanguineous marriage. Community Genet. 11: 324-330.
    • (2008) Community Genet. , vol.11 , pp. 324-330
    • Bittles, A.H.1
  • 48
    • 0036245054 scopus 로고    scopus 로고
    • Science and society: genetic counselling and customary consanguineous marriage
    • Modell, B. & A. Darr. 2002. Science and society: genetic counselling and customary consanguineous marriage. Nat. Rev. Genet. 3: 225-229.
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 225-229
    • Modell, B.1    Darr, A.2
  • 49
    • 71549150905 scopus 로고    scopus 로고
    • Statewide newborn screening for severe T-cell lymphopenia
    • Routes, J.M., W.J. Grossman, J. Verbsky, et al. 2009. Statewide newborn screening for severe T-cell lymphopenia. JAMA 302: 2465-2470.
    • (2009) JAMA , vol.302 , pp. 2465-2470
    • Routes, J.M.1    Grossman, W.J.2    Verbsky, J.3
  • 50
    • 79952199261 scopus 로고    scopus 로고
    • Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
    • Comeau, A.M., J.E. Hale, S.Y. Pai, et al. 2010. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J. Inherit. Metab. Dis. 33(Suppl. 2): S273-S281.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , Issue.SUPPL. 2
    • Comeau, A.M.1    Hale, J.E.2    Pai, S.Y.3


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