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Volumn 35, Issue 4, 2015, Pages 599-623

Overview of Immunodeficiency Disorders

Author keywords

Antibody deficiency; Autoimmunity; Immune defect; Immune dysregulation; Immunodeficiency; Innate immune defect; Lymphoproliferation

Indexed keywords

ANTIBIOTIC AGENT; AZATHIOPRINE; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLIXIMAB; INFLUENZA VACCINE; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 4; MYELOID DIFFERENTIATION FACTOR 88; PEGADEMASE; RITUXIMAB;

EID: 84943818607     PISSN: 08898561     EISSN: 15578607     Source Type: Journal    
DOI: 10.1016/j.iac.2015.07.001     Document Type: Review
Times cited : (101)

References (50)
  • 1
    • 84871337373 scopus 로고    scopus 로고
    • History of primary immunodeficiency diseases
    • Ochs H.D., Hitzig W.H. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol 2012, 12(6):577-587.
    • (2012) Curr Opin Allergy Clin Immunol , vol.12 , Issue.6 , pp. 577-587
    • Ochs, H.D.1    Hitzig, W.H.2
  • 2
    • 84900846113 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., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014, 5:162.
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3
  • 3
    • 77249139158 scopus 로고    scopus 로고
    • Selective IgA deficiency
    • Yel L. Selective IgA deficiency. J Clin Immunol 2010, 30(1):10-16.
    • (2010) J Clin Immunol , vol.30 , Issue.1 , pp. 10-16
    • Yel, L.1
  • 4
    • 84906543118 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
    • Kwan A., Abraham R.S., Currier R., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312(7):729-738.
    • (2014) JAMA , vol.312 , Issue.7 , pp. 729-738
    • Kwan, A.1    Abraham, R.S.2    Currier, R.3
  • 5
    • 84901423053 scopus 로고    scopus 로고
    • ICON: the early diagnosis of congenital immunodeficiencies
    • Routes J., Abinun M., Al-Herz W., et al. ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol 2014, 34(4):398-424.
    • (2014) J Clin Immunol , vol.34 , Issue.4 , pp. 398-424
    • Routes, J.1    Abinun, M.2    Al-Herz, W.3
  • 6
    • 84907597606 scopus 로고    scopus 로고
    • Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach
    • Grumach A.S., Kirschfink M. Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. Mol Immunol 2014, 61(2):110-117.
    • (2014) Mol Immunol , vol.61 , Issue.2 , pp. 110-117
    • Grumach, A.S.1    Kirschfink, M.2
  • 7
    • 79960121968 scopus 로고    scopus 로고
    • Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency
    • Picard C., Casanova J.L., Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev 2011, 24(3):490-497.
    • (2011) Clin Microbiol Rev , vol.24 , Issue.3 , pp. 490-497
    • Picard, C.1    Casanova, J.L.2    Puel, A.3
  • 8
    • 84890918243 scopus 로고    scopus 로고
    • Deficiency of innate and acquired immunity caused by an IKBKB mutation
    • Pannicke U., Baumann B., Fuchs S., et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med 2013, 369(26):2504-2514.
    • (2013) N Engl J Med , vol.369 , Issue.26 , pp. 2504-2514
    • Pannicke, U.1    Baumann, B.2    Fuchs, S.3
  • 9
    • 84890435435 scopus 로고    scopus 로고
    • Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans
    • Frazao J.B., Errante P.R., Condino-Neto A. Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans. Arch Immunol Ther Exp (Warsz) 2013, 61(6):427-443.
    • (2013) Arch Immunol Ther Exp (Warsz) , vol.61 , Issue.6 , pp. 427-443
    • Frazao, J.B.1    Errante, P.R.2    Condino-Neto, A.3
  • 10
    • 84883232593 scopus 로고    scopus 로고
    • Natural killer cell deficiency
    • [quiz: 526]
    • Orange J.S. Natural killer cell deficiency. J Allergy Clin Immunol 2013, 132(3):515-525. [quiz: 526].
    • (2013) J Allergy Clin Immunol , vol.132 , Issue.3 , pp. 515-525
    • Orange, J.S.1
  • 11
    • 84907549906 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders
    • Faitelson Y., Grunebaum E. Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders. Clin Immunol 2014, 155(1):118-125.
    • (2014) Clin Immunol , vol.155 , Issue.1 , pp. 118-125
    • Faitelson, Y.1    Grunebaum, E.2
  • 12
    • 84920449880 scopus 로고    scopus 로고
    • Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA
    • Charbonnier L.M., Janssen E., Chou J., et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol 2015, 135(1):217-227.
    • (2015) J Allergy Clin Immunol , vol.135 , Issue.1 , pp. 217-227
    • Charbonnier, L.M.1    Janssen, E.2    Chou, J.3
  • 13
    • 84888115370 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases
    • Verbsky J.W., Chatila T.A. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr 2013, 25(6):708-714.
    • (2013) Curr Opin Pediatr , vol.25 , Issue.6 , pp. 708-714
    • Verbsky, J.W.1    Chatila, T.A.2
  • 14
    • 84889883472 scopus 로고    scopus 로고
    • X-linked lymphoproliferative syndromes and related autosomal recessive disorders
    • Veillette A., Perez-Quintero L.A., Latour S. X-linked lymphoproliferative syndromes and related autosomal recessive disorders. Curr Opin Allergy Clin Immunol 2013, 13(6):614-622.
    • (2013) Curr Opin Allergy Clin Immunol , vol.13 , Issue.6 , pp. 614-622
    • Veillette, A.1    Perez-Quintero, L.A.2    Latour, S.3
  • 15
    • 77949264165 scopus 로고    scopus 로고
    • Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
    • Lohr N.J., Molleston J.P., Strauss K.A., et al. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet 2010, 86(3):447-453.
    • (2010) Am J Hum Genet , vol.86 , Issue.3 , pp. 447-453
    • Lohr, N.J.1    Molleston, J.P.2    Strauss, K.A.3
  • 16
    • 77957746866 scopus 로고    scopus 로고
    • Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop
    • Oliveira J.B., Bleesing J.J., Dianzani U., et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010, 116(14):e35-e40.
    • (2010) Blood , vol.116 , Issue.14 , pp. e35-e40
    • Oliveira, J.B.1    Bleesing, J.J.2    Dianzani, U.3
  • 17
    • 84922515812 scopus 로고    scopus 로고
    • The hereditary autoinflammatory disorders uncovered
    • Rigante D., Vitale A., Lucherini O.M., et al. The hereditary autoinflammatory disorders uncovered. Autoimmun Rev 2014, 13(9):892-900.
    • (2014) Autoimmun Rev , vol.13 , Issue.9 , pp. 892-900
    • Rigante, D.1    Vitale, A.2    Lucherini, O.M.3
  • 18
    • 84896543266 scopus 로고    scopus 로고
    • Laboratory diagnosis of primary immunodeficiencies
    • Locke B.A., Dasu T., Verbsky J.W. Laboratory diagnosis of primary immunodeficiencies. Clin Rev Allergy Immunol 2014, 46(2):154-168.
    • (2014) Clin Rev Allergy Immunol , vol.46 , Issue.2 , pp. 154-168
    • Locke, B.A.1    Dasu, T.2    Verbsky, J.W.3
  • 19
    • 80255138210 scopus 로고    scopus 로고
    • Choices in IgG replacement therapy for primary immune deficiency diseases: subcutaneous IgG vs. intravenous IgG and selecting an optimal dose
    • Berger M. Choices in IgG replacement therapy for primary immune deficiency diseases: subcutaneous IgG vs. intravenous IgG and selecting an optimal dose. Curr Opin Allergy Clin Immunol 2011, 11(6):532-538.
    • (2011) Curr Opin Allergy Clin Immunol , vol.11 , Issue.6 , pp. 532-538
    • Berger, M.1
  • 20
    • 84904510392 scopus 로고    scopus 로고
    • Sarcoidosis and common variable immunodeficiency: similarities and differences
    • Verbsky J.W., Routes J.M. Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 2014, 35(3):330-335.
    • (2014) Semin Respir Crit Care Med , vol.35 , Issue.3 , pp. 330-335
    • Verbsky, J.W.1    Routes, J.M.2
  • 21
    • 84926258207 scopus 로고    scopus 로고
    • Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency
    • Wehr C., Gennery A.R., Lindemans C., et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol 2015, 135(4):988-997.e6.
    • (2015) J Allergy Clin Immunol , vol.135 , Issue.4 , pp. 988-997.e6
    • Wehr, C.1    Gennery, A.R.2    Lindemans, C.3
  • 22
    • 84904136263 scopus 로고    scopus 로고
    • Lentiviral vectors for the treatment of primary immunodeficiencies
    • Farinelli G., Capo V., Scaramuzza S., et al. Lentiviral vectors for the treatment of primary immunodeficiencies. J Inherit Metab Dis 2014, 37(4):525-533.
    • (2014) J Inherit Metab Dis , vol.37 , Issue.4 , pp. 525-533
    • Farinelli, G.1    Capo, V.2    Scaramuzza, S.3
  • 23
    • 84904876386 scopus 로고    scopus 로고
    • Transplantation outcomes for severe combined immunodeficiency, 2000-2009
    • Pai S.Y., Logan B.R., Griffith L.M., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014, 371(5):434-446.
    • (2014) N Engl J Med , vol.371 , Issue.5 , pp. 434-446
    • Pai, S.Y.1    Logan, B.R.2    Griffith, L.M.3
  • 24
    • 84896542493 scopus 로고    scopus 로고
    • Recent advances in transplantation for primary immune deficiency diseases: a comprehensive review
    • de la Morena M.T., Nelson R.P. Recent advances in transplantation for primary immune deficiency diseases: a comprehensive review. Clin Rev Allergy Immunol 2014, 46(2):131-144.
    • (2014) Clin Rev Allergy Immunol , vol.46 , Issue.2 , pp. 131-144
    • de la Morena, M.T.1    Nelson, R.P.2
  • 25
    • 66049158683 scopus 로고    scopus 로고
    • CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features
    • Jyonouchi S., McDonald-McGinn D.M., Bale S., et al. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 2009, 123(5):e871-e877.
    • (2009) Pediatrics , vol.123 , Issue.5 , pp. e871-e877
    • Jyonouchi, S.1    McDonald-McGinn, D.M.2    Bale, S.3
  • 26
    • 84856225980 scopus 로고    scopus 로고
    • Immunological aspects of 22q11.2 deletion syndrome
    • Gennery A.R. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci 2012, 69(1):17-27.
    • (2012) Cell Mol Life Sci , vol.69 , Issue.1 , pp. 17-27
    • Gennery, A.R.1
  • 28
    • 79959690687 scopus 로고    scopus 로고
    • Educational paper: primary antibody deficiencies
    • Driessen G., van der Burg M. Educational paper: primary antibody deficiencies. Eur J Pediatr 2011, 170(6):693-702.
    • (2011) Eur J Pediatr , vol.170 , Issue.6 , pp. 693-702
    • Driessen, G.1    van der Burg, M.2
  • 29
    • 33746286879 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: report on a United States registry of 201 patients
    • Winkelstein J.A., Marino M.C., Lederman H.M., et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006, 85(4):193-202.
    • (2006) Medicine (Baltimore) , vol.85 , Issue.4 , pp. 193-202
    • Winkelstein, J.A.1    Marino, M.C.2    Lederman, H.M.3
  • 32
    • 0345276650 scopus 로고    scopus 로고
    • The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
    • Winkelstein J.A., Marino M.C., Ochs H., et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003, 82(6):373-384.
    • (2003) Medicine (Baltimore) , vol.82 , Issue.6 , pp. 373-384
    • Winkelstein, J.A.1    Marino, M.C.2    Ochs, H.3
  • 33
    • 84898058993 scopus 로고    scopus 로고
    • Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility
    • Crank M.C., Grossman J.K., Moir S., et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol 2014, 34(3):272-276.
    • (2014) J Clin Immunol , vol.34 , Issue.3 , pp. 272-276
    • Crank, M.C.1    Grossman, J.K.2    Moir, S.3
  • 34
    • 69249139541 scopus 로고    scopus 로고
    • Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity
    • Picard C., Dogniaux S., Chemin K., et al. Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. Eur J Immunol 2009, 39(7):1966-1976.
    • (2009) Eur J Immunol , vol.39 , Issue.7 , pp. 1966-1976
    • Picard, C.1    Dogniaux, S.2    Chemin, K.3
  • 35
    • 0034932953 scopus 로고    scopus 로고
    • Familial CD8 deficiency due to a mutation in the CD8 alpha gene
    • de la Calle-Martin O., Hernandez M., Ordi J., et al. Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest 2001, 108(1):117-123.
    • (2001) J Clin Invest , vol.108 , Issue.1 , pp. 117-123
    • de la Calle-Martin, O.1    Hernandez, M.2    Ordi, J.3
  • 36
    • 27644538518 scopus 로고    scopus 로고
    • Clinical and immunological aspects of HLA class I deficiency
    • Zimmer J., Andres E., Donato L., et al. Clinical and immunological aspects of HLA class I deficiency. QJM 2005, 98(10):719-727.
    • (2005) QJM , vol.98 , Issue.10 , pp. 719-727
    • Zimmer, J.1    Andres, E.2    Donato, L.3
  • 37
    • 0035064073 scopus 로고    scopus 로고
    • The bare lymphocyte syndrome and the regulation of MHC expression
    • Reith W., Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol 2001, 19:331-373.
    • (2001) Annu Rev Immunol , vol.19 , pp. 331-373
    • Reith, W.1    Mach, B.2
  • 38
    • 80054928104 scopus 로고    scopus 로고
    • Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency
    • Li F.Y., Lenardo M.J., Chaigne-Delalande B. Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency. Magnesium Res 2011, 24(3):S109-S114.
    • (2011) Magnesium Res , vol.24 , Issue.3 , pp. S109-S114
    • Li, F.Y.1    Lenardo, M.J.2    Chaigne-Delalande, B.3
  • 39
    • 84869144892 scopus 로고    scopus 로고
    • Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
    • Hauck F., Randriamampita C., Martin E., et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol 2012, 130(5):1144-1152.e11.
    • (2012) J Allergy Clin Immunol , vol.130 , Issue.5 , pp. 1144-1152.e11
    • Hauck, F.1    Randriamampita, C.2    Martin, E.3
  • 40
    • 84862132898 scopus 로고    scopus 로고
    • Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
    • Lopez-Herrera G., Tampella G., Pan-Hammarstrom Q., et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 2012, 90(6):986-1001.
    • (2012) Am J Hum Genet , vol.90 , Issue.6 , pp. 986-1001
    • Lopez-Herrera, G.1    Tampella, G.2    Pan-Hammarstrom, Q.3
  • 41
    • 84856911463 scopus 로고    scopus 로고
    • A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia
    • Gorska M.M., Alam R. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood 2012, 119(6):1399-1406.
    • (2012) Blood , vol.119 , Issue.6 , pp. 1399-1406
    • Gorska, M.M.1    Alam, R.2
  • 42
    • 84857800335 scopus 로고    scopus 로고
    • CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
    • van Montfrans J.M., Hoepelman A.I., Otto S., et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol 2012, 129(3):787-793.e6.
    • (2012) J Allergy Clin Immunol , vol.129 , Issue.3 , pp. 787-793.e6
    • van Montfrans, J.M.1    Hoepelman, A.I.2    Otto, S.3
  • 43
    • 84912042007 scopus 로고    scopus 로고
    • Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects
    • Ghosh S., Bienemann K., Boztug K., et al. Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. J Clin Immunol 2014, 34(8):892-899.
    • (2014) J Clin Immunol , vol.34 , Issue.8 , pp. 892-899
    • Ghosh, S.1    Bienemann, K.2    Boztug, K.3
  • 44
    • 84898768721 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments
    • Buchbinder D., Nugent D.J., Fillipovich A.H. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet 2014, 7:55-66.
    • (2014) Appl Clin Genet , vol.7 , pp. 55-66
    • Buchbinder, D.1    Nugent, D.J.2    Fillipovich, A.H.3
  • 45
    • 84856946231 scopus 로고    scopus 로고
    • A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
    • Lanzi G., Moratto D., Vairo D., et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 2012, 209(1):29-34.
    • (2012) J Exp Med , vol.209 , Issue.1 , pp. 29-34
    • Lanzi, G.1    Moratto, D.2    Vairo, D.3
  • 46
    • 84870738828 scopus 로고    scopus 로고
    • Diseases associated with defective responses to DNA damage
    • pii:a012773
    • O'Driscoll M. Diseases associated with defective responses to DNA damage. Cold Spring Harb Perspect Biol 2012, 4(12). [pii:a012773].
    • (2012) Cold Spring Harb Perspect Biol , vol.4 , Issue.12
    • O'Driscoll, M.1
  • 47
    • 49649107242 scopus 로고    scopus 로고
    • Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia
    • Baradaran-Heravi A., Thiel C., Rauch A., et al. Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet A 2008, 146A(15):2013-2017.
    • (2008) Am J Med Genet A , vol.146A , Issue.15 , pp. 2013-2017
    • Baradaran-Heravi, A.1    Thiel, C.2    Rauch, A.3
  • 48
    • 84916894941 scopus 로고    scopus 로고
    • Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care
    • Farmand S., Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol 2015, 22(1):12-22.
    • (2015) Curr Opin Hematol , vol.22 , Issue.1 , pp. 12-22
    • Farmand, S.1    Sundin, M.2
  • 49
    • 70349754453 scopus 로고    scopus 로고
    • Genetic etiologies of leukocyte adhesion defects
    • Etzioni A. Genetic etiologies of leukocyte adhesion defects. Curr Opin Immunol 2009, 21(5):481-486.
    • (2009) Curr Opin Immunol , vol.21 , Issue.5 , pp. 481-486
    • Etzioni, A.1


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