메뉴 건너뛰기




Volumn 46, Issue 2, 2014, Pages 154-168

Laboratory diagnosis of primary immunodeficiencies

Author keywords

Diagnosis; Flow cytometry; Laboratory assessment; Primary immunodeficiency

Indexed keywords

BRUTON TYROSINE KINASE; CD27 ANTIGEN; CD38 ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN M; MYELOPEROXIDASE; STAT PROTEIN; TRANSCRIPTION FACTOR FOXP3; VACCINE;

EID: 84896543266     PISSN: 10800549     EISSN: 15590267     Source Type: Journal    
DOI: 10.1007/s12016-014-8412-4     Document Type: Article
Times cited : (55)

References (115)
  • 1
    • 84857728623 scopus 로고    scopus 로고
    • Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency 2011
    • Chapel H (2012) Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency 2011. Clin Exp Immunol 168:58-59
    • (2012) Clin Exp Immunol , vol.168 , pp. 58-59
    • Chapel, H.1
  • 2
    • 67651004925 scopus 로고    scopus 로고
    • Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections
    • Fried AJ, Bonilla FA (2009) Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev 22:396-414
    • (2009) Clin Microbiol Rev , vol.22 , pp. 396-414
    • Fried, A.J.1    Bonilla, F.A.2
  • 3
    • 67650744339 scopus 로고    scopus 로고
    • Primary B cell immunodeficiencies: Comparisons and contrasts
    • Conley ME, Dobbs AK et al (2009) Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 27:199-227
    • (2009) Annu Rev Immunol , vol.27 , pp. 199-227
    • Conley, M.E.1    Dobbs, A.K.2
  • 4
    • 84876429921 scopus 로고    scopus 로고
    • Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID)
    • Chase NM, Verbsky JW et al (2012) Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID). J Clin Immunol 33:30-9
    • (2012) J Clin Immunol , vol.33 , pp. 30-39
    • Chase, N.M.1    Verbsky, J.W.2
  • 5
    • 47649102955 scopus 로고    scopus 로고
    • Common variable immunodeficiency disorders: Division into distinct clinical phenotypes
    • Chapel H, Lucas M et al (2008) Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 112:277-286
    • (2008) Blood , vol.112 , pp. 277-286
    • Chapel, H.1    Lucas, M.2
  • 7
    • 36049036248 scopus 로고    scopus 로고
    • Assessment and clinical interpretation of polysaccharide antibody responses
    • Paris K, Sorensen RU (2007) Assessment and clinical interpretation of polysaccharide antibody responses. Ann Allergy Asthma Immunol 99:462-464 (Pubitemid 350086206)
    • (2007) Annals of Allergy, Asthma and Immunology , vol.99 , Issue.5 , pp. 462-464
    • Paris, K.1    Sorensen, R.U.2
  • 8
    • 33845217428 scopus 로고    scopus 로고
    • Validation of current joint American Academy of Allergy, Asthma & Immunology and American College of Allergy, Asthma and Immunology guidelines for antibody response to the 23-valent pneumococcal vaccine using a population of HIV-infected children
    • DOI 10.1016/j.jaci.2006.09.036, PII S0091674906020124
    • Kamchaisatian W, Wanwatsuntikul W, Sleasman JW, Tangsinmankong N (2006) Validation of current joint American Academy of Allergy, Asthma & Immunology and American College of Allergy, Asthma and Immunology guidelines for antibody response to the 23-valent pneumococcal vaccine using a population of HIV-infected children. J Allergy Clin Immunol 118:1336-1341 (Pubitemid 44854133)
    • (2006) Journal of Allergy and Clinical Immunology , vol.118 , Issue.6 , pp. 1336-1341
    • Kamchaisatian, W.1    Wanwatsuntikul, W.2    Sleasman, J.W.3    Tangsinmankong, N.4
  • 9
    • 0015182749 scopus 로고
    • Immunologic responses to bacteriophage phi-X 174 in immunodeficiency diseases
    • Ochs HD, Davis SD, Wedgwood RJ (1971) Immunologic responses to bacteriophage phi-X 174 in immunodeficiency diseases. J Clin Invest 50:2559-2568
    • (1971) J Clin Invest , vol.50 , pp. 2559-2568
    • Ochs, H.D.1    Davis, S.D.2    Wedgwood, R.J.3
  • 10
    • 84862865305 scopus 로고    scopus 로고
    • Use and interpretation of diagnostic vaccination in primary immunodeficiency: A working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology
    • Orange JS, Ballow M et al (2012) Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol 130:S1-S24
    • (2012) J Allergy Clin Immunol , vol.130
    • Orange, J.S.1    Ballow, M.2
  • 11
    • 76749087460 scopus 로고    scopus 로고
    • Laboratory evaluation of primary immunodeficiencies
    • Oliveira JB, Fleisher TA (2010) Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol 125:S297-S305
    • (2010) J Allergy Clin Immunol , vol.125
    • Oliveira, J.B.1    Fleisher, T.A.2
  • 13
    • 0036493366 scopus 로고    scopus 로고
    • -) in subgroups of patients with common variable immunodeficiency: A new approach to classify a heterogeneous disease
    • DOI 10.1182/blood.V99.5.1544
    • Warnatz K, Denz A et al (2002) Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99:1544-1551 (Pubitemid 34533024)
    • (2002) Blood , vol.99 , Issue.5 , pp. 1544-1551
    • Warnatz, K.1    Denz, A.2    Drager, R.3    Braun, M.4    Groth, C.5    Wolff-Vorbeck, G.6    Eibel, H.7    Schlesier, M.8    Peter, H.H.9
  • 14
    • 0026672437 scopus 로고
    • Immunophenotypical alterations in a subset of patients with common variable immunodeficiency (CVID)
    • Baumert E, Wolff-Vorbeck G, Schlesier M, Peter HH (1992) Immunophenotypical alterations in a subset of patients with common variable immunodeficiency (CVID). Clin Exp Immunol 90:25-30
    • (1992) Clin Exp Immunol , vol.90 , pp. 25-30
    • Baumert, E.1    Wolff-Vorbeck, G.2    Schlesier, M.3    Peter, H.H.4
  • 15
    • 38049105639 scopus 로고    scopus 로고
    • The EUROclass trial: Defining subgroups in common variable immunodeficiency
    • Wehr C, Kivioja T et al (2008) The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 111:77-85
    • (2008) Blood , vol.111 , pp. 77-85
    • Wehr, C.1    Kivioja, T.2
  • 16
    • 77954684486 scopus 로고    scopus 로고
    • Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones
    • Isnardi I, Ng YS et al (2010) Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood 115:5026-5036
    • (2010) Blood , vol.115 , pp. 5026-5036
    • Isnardi, I.1    Ng, Y.S.2
  • 19
    • 51749093932 scopus 로고    scopus 로고
    • Flowcytometric phenotyping of common variable immunodeficiency
    • Warnatz K, Schlesier M (2008) Flowcytometric phenotyping of common variable immunodeficiency. Cytometry B Clin Cytom 74:261-271
    • (2008) Cytometry B Clin Cytom , vol.74 , pp. 261-271
    • Warnatz, K.1    Schlesier, M.2
  • 22
    • 69549128384 scopus 로고    scopus 로고
    • B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans
    • Warnatz K, Salzer U et al (2009) B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A 106:13945-13950
    • (2009) Proc Natl Acad Sci U S a , vol.106 , pp. 13945-13950
    • Warnatz, K.1    Salzer, U.2
  • 23
    • 33645735643 scopus 로고    scopus 로고
    • Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency
    • Warnatz K, Bossaller L et al (2006) Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood 107:3045-3052
    • (2006) Blood , vol.107 , pp. 3045-3052
    • Warnatz, K.1    Bossaller, L.2
  • 26
    • 0030475849 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: A clinical and molecular analysis
    • DOI 10.1097/00005792-199611000-00001
    • Ochs HD, Smith CI (1996) X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore) 75:287-299 (Pubitemid 27009232)
    • (1996) Medicine , vol.75 , Issue.6 , pp. 287-299
    • Ochs, H.D.1    Smith, C.I.E.2
  • 27
    • 59449099811 scopus 로고    scopus 로고
    • Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina
    • Basile N, Danielian S et al (2009) Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina. J Clin Immunol 29:123-129
    • (2009) J Clin Immunol , vol.29 , pp. 123-129
    • Basile, N.1    Danielian, S.2
  • 28
    • 0034797087 scopus 로고    scopus 로고
    • Flow cytometric immunophenotyping in the diagnosis and follow-up of immunodeficient children
    • DOI 10.1007/s004310100797
    • de Vries E, Noordzij JG, Kuijpers TW, van Dongen JJ (2001) Flow cytometric immunophenotyping in the diagnosis and follow-up of immunodeficient children. Eur J Pediatr 160:583-591 (Pubitemid 32939426)
    • (2001) European Journal of Pediatrics , vol.160 , Issue.10 , pp. 583-591
    • De Vries, E.1    Noordzij, J.G.2    Kuijpers, T.W.3    Van Dongen, J.J.4
  • 29
    • 53749108372 scopus 로고    scopus 로고
    • XLA-associated neutropenia treatment: A case report and review of the literature
    • Jacobs ZD, Guajardo JR, Anderson KM (2008) XLA-associated neutropenia treatment: a case report and review of the literature. J Pediatr Hematol Oncol 30:631-634
    • (2008) J Pediatr Hematol Oncol , vol.30 , pp. 631-634
    • Jacobs, Z.D.1    Guajardo, J.R.2    Anderson, K.M.3
  • 31
    • 54449098285 scopus 로고    scopus 로고
    • Gene symbol: BTK. Disease: Agammaglobulinaemia
    • Mueller OT, Hitchcock R (2008) Gene symbol: BTK. Disease: agammaglobulinaemia. Hum Genet 124:299-300
    • (2008) Hum Genet , vol.124 , pp. 299-300
    • Mueller, O.T.1    Hitchcock, R.2
  • 33
    • 0021870867 scopus 로고
    • A uniform deleting element mediates the loss of kappa genes in human B cells
    • DOI 10.1038/316260a0
    • Siminovitch KA, Bakhshi A, Goldman P, Korsmeyer SJ (1985) A uniform deleting element mediates the loss of kappa genes in human B cells. Nature 316:260-262 (Pubitemid 15073692)
    • (1985) Nature , vol.316 , Issue.6025 , pp. 260-262
    • Siminovitch, K.A.1    Bakhshi, A.2    Goldman, P.3    Korsmeyer, S.J.4
  • 34
    • 84858650277 scopus 로고    scopus 로고
    • Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
    • Borte S, von Dobeln U et al (2012) Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 119:2552-2555
    • (2012) Blood , vol.119 , pp. 2552-2555
    • Borte, S.1    Von Dobeln, U.2
  • 35
    • 57149090516 scopus 로고    scopus 로고
    • Recent developments related to the laboratory diagnosis of primary immunodeficiency diseases
    • O'Gorman MR (2008) Recent developments related to the laboratory diagnosis of primary immunodeficiency diseases. Curr Opin Pediatr 20:688-697
    • (2008) Curr Opin Pediatr , vol.20 , pp. 688-697
    • O'Gorman, M.R.1
  • 38
    • 0026603735 scopus 로고
    • Selective deficiency of CD4+/CD45RA+lymphocytes in patients with ataxia-telangiectasia
    • Paganelli R, Scala E et al (1992) Selective deficiency of CD4+/CD45RA+lymphocytes in patients with ataxia-telangiectasia. J Clin Immunol 12:84-91
    • (1992) J Clin Immunol , vol.12 , pp. 84-91
    • Paganelli, R.1    Scala, E.2
  • 43
    • 0035885937 scopus 로고    scopus 로고
    • Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: A study of 121 patients
    • Muller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W (2001) Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 98:1847-1851
    • (2001) Blood , vol.98 , pp. 1847-1851
    • Muller, S.M.1    Ege, M.2    Pottharst, A.3    Schulz, A.S.4    Schwarz, K.5    Friedrich, W.6
  • 45
    • 0031554755 scopus 로고    scopus 로고
    • Anergy skin testing and tuberculosis [corrected] preventive therapy for HIV-infected persons: Revised recommendations. Centers for Disease Control and Prevention
    • (1997), Anergy skin testing and tuberculosis [corrected] preventive therapy for HIV-infected persons: revised recommendations. Centers for Disease Control and Prevention. MMWR Recomm Rep. 46, 1-10.
    • (1997) MMWR Recomm Rep , vol.46 , pp. 1-10
  • 46
    • 71549150905 scopus 로고    scopus 로고
    • Statewide newborn screening for severe T-cell lymphopenia
    • Routes JM, Grossman WJ 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
  • 47
    • 82555186587 scopus 로고    scopus 로고
    • Newborn screening for SCID: Three years of experience
    • Chase NM, Verbsky JW, Routes JM (2011) Newborn screening for SCID: three years of experience. Ann N Y Acad Sci 1238:99-105
    • (2011) Ann N Y Acad Sci , vol.1238 , pp. 99-105
    • Chase, N.M.1    Verbsky, J.W.2    Routes, J.M.3
  • 48
    • 84857715837 scopus 로고    scopus 로고
    • The Wisconsin approach to newborn screening for severe combined immunodeficiency
    • Verbsky J, Thakar M, Routes J (2012) The Wisconsin approach to newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 129:622-627
    • (2012) J Allergy Clin Immunol , vol.129 , pp. 622-627
    • Verbsky, J.1    Thakar, M.2    Routes, J.3
  • 50
    • 0028220953 scopus 로고
    • Circulating T cell repertoire complexity in normal individuals and bone marrow recipients analyzed by CDR3 size spectratyping: Correlation with immune status
    • Gorski J, Yassai M et al (1994) Circulating T cell repertoire complexity in normal individuals and bone marrow recipients analyzed by CDR3 size spectratyping. Correlation with immune status. J Immunol 152:5109-5119 (Pubitemid 24139107)
    • (1994) Journal of Immunology , vol.152 , Issue.10 , pp. 5109-5119
    • Gorski, J.1    Yassai, M.2    Zhu, X.3    Kissella, B.4    Keever, C.5    Flomenberg, N.6
  • 52
    • 34948872289 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    • Geha RS, Notarangelo LD et al (2007) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776-794
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 776-794
    • Geha, R.S.1    Notarangelo, L.D.2
  • 55
    • 84255197284 scopus 로고    scopus 로고
    • IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo
    • Recher M, Berglund LJ et al (2011) IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo. Blood 118:6824-6835
    • (2011) Blood , vol.118 , pp. 6824-6835
    • Recher, M.1    Berglund, L.J.2
  • 56
    • 0033751632 scopus 로고    scopus 로고
    • Severe combined immunodeficiencies (SCID)
    • Fischer A (2000) Severe combined immunodeficiencies (SCID). Clin Exp Immunol 122:143-149
    • (2000) Clin Exp Immunol , vol.122 , pp. 143-149
    • Fischer, A.1
  • 57
    • 0035126270 scopus 로고    scopus 로고
    • Severe combined immunodeficiency - Molecular pathogenesis and diagnosis
    • DOI 10.1136/adc.84.2.169
    • Gaspar HB, Gilmour KC, Jones AM (2001) Severe combined immunodeficiency-molecular pathogenesis and diagnosis. Arch Dis Child 84:169-173 (Pubitemid 32150338)
    • (2001) Archives of Disease in Childhood , vol.84 , Issue.2 , pp. 169-173
    • Gaspar, H.B.1    Gilmour, K.C.2    Jones, A.M.3
  • 58
    • 0036207352 scopus 로고    scopus 로고
    • Flow cytometry analysis of adenosine deaminase (ADA) expression: A simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy
    • DOI 10.1089/10430340252792558
    • Otsu M, Hershfield MS et al (2002) Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. Hum Gene Ther 13:425-432 (Pubitemid 34251507)
    • (2002) Human Gene Therapy , vol.13 , Issue.3 , pp. 425-432
    • Otsu, M.1    Hershfield, M.S.2    Tuschong, L.M.3    Muul, L.M.4    Onodera, M.5    Ariga, T.6    Sakiyama, Y.7    Candotti, F.8
  • 59
    • 0035012989 scopus 로고    scopus 로고
    • Omenn's syndrome: Differential diagnosis in infants with erythroderma and immunodeficiency
    • DOI 10.1007/s100240010171
    • Scheimberg I, Hoeger PH, Harper JI, Lake B, Malone M (2001) Omenn's syndrome: differential diagnosis in infants with erythroderma and immunodeficiency. Pediatr Dev Pathol 4:237-245 (Pubitemid 32423822)
    • (2001) Pediatric and Developmental Pathology , vol.4 , Issue.3 , pp. 237-245
    • Scheimberg, I.1    Hoeger, P.H.2    Harper, J.I.3    Lake, B.4    Malone, M.5
  • 60
    • 0035089907 scopus 로고    scopus 로고
    • Diagnosis of severe combined immunodeficiency
    • DOI 10.1136/jcp.54.3.191
    • Gennery AR, Cant AJ (2001) Diagnosis of severe combined immunodeficiency. J Clin Pathol 54:191-195 (Pubitemid 32205038)
    • (2001) Journal of Clinical Pathology , vol.54 , Issue.3 , pp. 191-195
    • Gennery, A.R.1    Cant, A.J.2
  • 61
    • 0035064073 scopus 로고    scopus 로고
    • The bare lymphocyte syndrome and the regulation of MHC expression
    • DOI 10.1146/annurev.immunol.19.1.331
    • Reith W, Mach B (2001) The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol 19:331-373 (Pubitemid 32368039)
    • (2001) Annual Review of Immunology , vol.19 , pp. 331-373
    • Reith, W.1    Mach, B.2
  • 62
    • 0025099345 scopus 로고
    • Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ('bare lymphocyte syndrome')
    • Casper JT, Ash RA, Kirchner P, Hunter JB, Havens PL, Chusid MJ (1990) Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ("bare lymphocyte syndrome"). J Pediatr 116:262-265 (Pubitemid 20056783)
    • (1990) Journal of Pediatrics , vol.116 , Issue.2 , pp. 262-265
    • Casper, J.T.1    Ash, R.A.2    Kirchner, P.3    Hunter, J.B.4    Havens, P.L.5    Chusid, M.J.6
  • 63
    • 0024375496 scopus 로고
    • Use of flow cytometry in the evaluation and diagnosis of primary and secondary immunodeficiency diseases
    • Nicholson JK (1989) Use of flow cytometry in the evaluation and diagnosis of primary and secondary immunodeficiency diseases. Arch Pathol Lab Med 113:598-605
    • (1989) Arch Pathol Lab Med , vol.113 , pp. 598-605
    • Nicholson, J.K.1
  • 64
    • 39649115848 scopus 로고    scopus 로고
    • The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: A report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006
    • Stewart DM, Candotti F, Nelson DL (2007) The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006. J Clin Immunol 27:634-639
    • (2007) J Clin Immunol , vol.27 , pp. 634-639
    • Stewart, D.M.1    Candotti, F.2    Nelson, D.L.3
  • 65
    • 77953941716 scopus 로고    scopus 로고
    • Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program
    • Baker MW, Laessig RH et al (2010) Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep 125(Suppl 2):88-95
    • (2010) Public Health Rep , vol.125 , Issue.SUPPL. 2 , pp. 88-95
    • Baker, M.W.1    Laessig, R.H.2
  • 67
    • 77957122165 scopus 로고    scopus 로고
    • Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease
    • Tomita-Mitchell A, Mahnke DK et al (2010) Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics 42A:52-60
    • (2010) Physiol Genomics , vol.42 A , pp. 52-60
    • Tomita-Mitchell, A.1    Mahnke, D.K.2
  • 68
    • 84861716578 scopus 로고    scopus 로고
    • Evaluation of a patient with hyper-IgM syndrome
    • Uygungil B, Bonilla F, Lederman H (2012) Evaluation of a patient with hyper-IgM syndrome. J Allergy Clin Immunol 129(1692-1693):e1694
    • (2012) J Allergy Clin Immunol , vol.129 , Issue.1692-1693
    • Uygungil, B.1    Bonilla, F.2    Lederman, H.3
  • 69
    • 84876796296 scopus 로고    scopus 로고
    • Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome
    • Vargas-Hernandez A, Berron-Ruiz L et al (2012) Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome. Clin Genet 83:585-87
    • (2012) Clin Genet , vol.83 , pp. 585-587
    • Vargas-Hernandez, A.1    Berron-Ruiz, L.2
  • 70
    • 0030776074 scopus 로고    scopus 로고
    • Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers
    • DOI 10.1006/clin.1997.4422
    • O'Gorman MR, Zaas D, Paniagua M, Corrochano V, Scholl PR, Pachman LM (1997) Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. Clin Immunol Immunopathol 85:172-181 (Pubitemid 27512960)
    • (1997) Clinical Immunology and Immunopathology , vol.85 , Issue.2 , pp. 172-181
    • O'Gorman, M.R.G.1    Zaas, D.2    Paniagua, M.3    Corrochano, V.4    Scholl, P.R.5    Pachman, L.M.6
  • 71
    • 14944385521 scopus 로고    scopus 로고
    • Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
    • DOI 10.1182/blood-2003-12-4420
    • Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD (2005) Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 105:1881-1890 (Pubitemid 40731768)
    • (2005) Blood , vol.105 , Issue.5 , pp. 1881-1890
    • Lee, W.-I.1    Torgerson, T.R.2    Schumacher, M.J.3    Yel, L.4    Zhu, Q.5    Ochs, H.D.6
  • 72
    • 0032190068 scopus 로고    scopus 로고
    • Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome
    • Seyama K, Nonoyama S et al (1998) Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 92:2421-2434 (Pubitemid 28452985)
    • (1998) Blood , vol.92 , Issue.7 , pp. 2421-2434
    • Seyama, K.1    Nonoyama, S.2    Gangsaas, I.3    Hollenbaugh, D.4    Pabst, H.F.5    Aruffo, A.6    Ochs, H.D.7
  • 74
    • 34249814325 scopus 로고    scopus 로고
    • Pathophysiology of B-Cell Intrinsic Immunoglobulin Class Switch Recombination Deficiencies
    • DOI 10.1016/S0065-2776(06)94009-7, PII S0065277606940097, AID for Immunoglobulin Diversity
    • Durandy A, Taubenheim N, Peron S, Fischer A (2007) Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol 94:275-306 (Pubitemid 46856614)
    • (2007) Advances in Immunology , vol.94 , pp. 275-306
    • Durandy, A.1    Taubenheim, N.2    Peron, S.3    Fischer, A.4
  • 75
    • 0032213375 scopus 로고    scopus 로고
    • Inside the neutrophil phagosome: Oxidants, myeloperoxidase, and bacterial killing
    • Hampton MB, Kettle AJ, Winterbourn CC (1998) Inside the neutrophil phagosome: oxidants, myeloperoxidase, and bacterial killing. Blood 92:3007-3017 (Pubitemid 28492304)
    • (1998) Blood , vol.92 , Issue.9 , pp. 3007-3017
    • Hampton, M.B.1    Kettle, A.J.2    Winterbourn, C.C.3
  • 77
    • 0030904022 scopus 로고    scopus 로고
    • Effect of glucose-6-phosphate dehydrogenase deficiency on neutrophil function
    • Ardati KO, Bajakian KM, Tabbara KS (1997) Effect of glucose-6-phosphate dehydrogenase deficiency on neutrophil function. Acta Haematol 97:211-215 (Pubitemid 27173966)
    • (1997) Acta Haematologica , vol.97 , Issue.4 , pp. 211-215
    • Ardati, K.O.1    Bajakian, K.M.2    Tabbara, K.S.3
  • 79
    • 84856507318 scopus 로고    scopus 로고
    • Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects
    • quiz 306-297
    • Engelhardt KR, Grimbacher B (2012) Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol 129:294-305, quiz 306-297
    • (2012) J Allergy Clin Immunol , vol.129 , pp. 294-305
    • Engelhardt, K.R.1    Grimbacher, B.2
  • 80
    • 78650648441 scopus 로고    scopus 로고
    • Clinical manifestations of hyper IgE syndromes
    • Freeman AF, Holland SM (2010) Clinical manifestations of hyper IgE syndromes. Dis Markers 29:123-130
    • (2010) Dis Markers , vol.29 , pp. 123-130
    • Freeman, A.F.1    Holland, S.M.2
  • 81
    • 65349173560 scopus 로고    scopus 로고
    • TH17 cells and regulatory T cells in primary immunodeficiency diseases
    • quiz 984-975
    • Ochs HD, Oukka M, Torgerson TR (2009) TH17 cells and regulatory T cells in primary immunodeficiency diseases. J Allergy Clin Immunol 123:977-983, quiz 984-975
    • (2009) J Allergy Clin Immunol , vol.123 , pp. 977-983
    • Ochs, H.D.1    Oukka, M.2    Torgerson, T.R.3
  • 82
    • 29444459408 scopus 로고    scopus 로고
    • Natural killer cells in human health and disease
    • DOI 10.1016/j.clim.2005.10.011, PII S1521661605003347
    • Orange JS, Ballas ZK (2006) Natural killer cells in human health and disease. Clin Immunol 118:1-10 (Pubitemid 43012040)
    • (2006) Clinical Immunology , vol.118 , Issue.1 , pp. 1-10
    • Orange, J.S.1    Ballas, Z.K.2
  • 83
    • 0019931749 scopus 로고
    • Mechanism of cell-mediated cytotoxicity at the single cell level. IV. Natural killing and antibody-dependent cellular cytotoxicity can be mediated by the same human effector cell as determined by the two-target conjugate assay
    • Bradley TP, Bonavida B (1982) Mechanism of cell-mediated cytotoxicity at the single cell level. IV. Natural killing and antibody-dependent cellular cytotoxicity can be mediated by the same human effector cell as determined by the two-target conjugate assay. J Immunol 129:2260-2265 (Pubitemid 12004406)
    • (1982) Journal of Immunology , vol.129 , Issue.5 , pp. 2260-2265
    • Bradley, T.P.1    Bonavida, B.2
  • 84
    • 10344255635 scopus 로고    scopus 로고
    • CD107a as a functional marker for the identification of natural killer cell activity
    • DOI 10.1016/j.jim.2004.08.008, PII S0022175904002923
    • Alter G, Malenfant JM, Altfeld M (2004) CD107a as a functional marker for the identification of natural killer cell activity. J Immunol Methods 294:15-22 (Pubitemid 39626587)
    • (2004) Journal of Immunological Methods , vol.294 , Issue.1-2 , pp. 15-22
    • Alter, G.1    Malenfant, J.M.2    Altfeld, M.3
  • 85
    • 45549100818 scopus 로고    scopus 로고
    • Isolation and analysis of human natural killer cell subsets
    • Ferlazzo G (2008) Isolation and analysis of human natural killer cell subsets. Methods Mol Biol 415:197-213
    • (2008) Methods Mol Biol , vol.415 , pp. 197-213
    • Ferlazzo, G.1
  • 86
    • 55949118498 scopus 로고    scopus 로고
    • Flow cytometric detection of perforin upregulation in human CD8 Tcells
    • Hersperger AR, Makedonas G, Betts MR (2008) Flow cytometric detection of perforin upregulation in human CD8 Tcells. Cytometry A 73:1050-1057
    • (2008) Cytometry A , vol.73 , pp. 1050-1057
    • Hersperger, A.R.1    Makedonas, G.2    Betts, M.R.3
  • 88
    • 33749349937 scopus 로고    scopus 로고
    • Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): Defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease
    • DOI 10.1182/blood-2006-04-015693
    • Marcenaro S, Gallo F et al (2006) Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood 108:2316-2323 (Pubitemid 44497515)
    • (2006) Blood , vol.108 , Issue.7 , pp. 2316-2323
    • Marcenaro, S.1    Gallo, F.2    Martini, S.3    Santoro, A.4    Griffiths, G.M.5    Arico, M.6    Moretta, L.7    Pende, D.8
  • 89
    • 84858812138 scopus 로고    scopus 로고
    • A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
    • Bryceson YT, Pende D et al (2012) A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119:2754-2763
    • (2012) Blood , vol.119 , pp. 2754-2763
    • Bryceson, Y.T.1    Pende, D.2
  • 91
    • 13144302865 scopus 로고    scopus 로고
    • Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
    • DOI 10.1111/j.0105-2896.2005.00230.x
    • Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG (2005) Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev 203:180-199 (Pubitemid 40179702)
    • (2005) Immunological Reviews , vol.203 , pp. 180-199
    • Nichols, K.E.1    Ma, C.S.2    Cannons, J.L.3    Schwartzberg, P.L.4    Tangye, S.G.5
  • 92
    • 79551644967 scopus 로고    scopus 로고
    • Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
    • Pachlopnik Schmid J, Canioni D et al (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 117:1522-1529
    • (2011) Blood , vol.117 , pp. 1522-1529
    • Pachlopnik Schmid, J.1    Canioni, D.2
  • 93
    • 67349171083 scopus 로고    scopus 로고
    • Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations
    • Marsh RA, Villanueva J et al (2009) Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol 132:116-123
    • (2009) Clin Immunol , vol.132 , pp. 116-123
    • Marsh, R.A.1    Villanueva, J.2
  • 94
    • 77958509989 scopus 로고    scopus 로고
    • Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency
    • Marsh RA, Bleesing JJ, Filipovich AH (2010) Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods 362: 1-9
    • (2010) J Immunol Methods , vol.362 , pp. 1-9
    • Marsh, R.A.1    Bleesing, J.J.2    Filipovich, A.H.3
  • 96
    • 78049259067 scopus 로고    scopus 로고
    • Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders
    • Oliveira JB, Fleisher TA (2010) Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders. Curr Allergy Asthma Rep 10:460-467
    • (2010) Curr Allergy Asthma Rep , vol.10 , pp. 460-467
    • Oliveira, J.B.1    Fleisher, T.A.2
  • 98
    • 0034874691 scopus 로고    scopus 로고
    • Detection of intracellular phosphorylated STAT-4 by flow cytometry
    • Uzel G, Frucht DM, Fleisher TA, Holland SM (2001) Detection of intracellular phosphorylated STAT-4 by flow cytometry. Clin Immunol 100:270-276
    • (2001) Clin Immunol , vol.100 , pp. 270-276
    • Uzel, G.1    Frucht, D.M.2    Fleisher, T.A.3    Holland, S.M.4
  • 99
    • 1942500177 scopus 로고    scopus 로고
    • Clinical and laboratory evaluation of complement deficiency
    • quiz 594
    • Wen L, Atkinson JP, Giclas PC (2004) Clinical and laboratory evaluation of complement deficiency. J Allergy Clin Immunol 113:585-593, quiz 594
    • (2004) J Allergy Clin Immunol , vol.113 , pp. 585-593
    • Wen, L.1    Atkinson, J.P.2    Giclas, P.C.3
  • 100
    • 44449110577 scopus 로고    scopus 로고
    • Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED
    • Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD (2008) Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 28(Suppl 1):S11-S19
    • (2008) J Clin Immunol , vol.28 , Issue.SUPPL. 1
    • Moraes-Vasconcelos, D.1    Costa-Carvalho, B.T.2    Torgerson, T.R.3    Ochs, H.D.4
  • 103
    • 0038434099 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
    • DOI 10.1097/00002281-200307000-00010
    • Gambineri E, Torgerson TR, Ochs HD (2003) Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 15:430-435 (Pubitemid 36774255)
    • (2003) Current Opinion in Rheumatology , vol.15 , Issue.4 , pp. 430-435
    • Gambineri, E.1    Torgerson, T.R.2    Ochs, H.D.3
  • 104
    • 70350328995 scopus 로고    scopus 로고
    • FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome
    • D'Hennezel E, Ben-Shoshan M et al (2009) FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. N Engl J Med 361:1710-1713
    • (2009) N Engl J Med , vol.361 , pp. 1710-1713
    • D'Hennezel, E.1    Ben-Shoshan, M.2
  • 105
    • 34948875308 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells
    • quiz 751-742
    • Torgerson TR, Ochs HD (2007) Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 120:744-750, quiz 751-742
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 744-750
    • Torgerson, T.R.1    Ochs, H.D.2
  • 106
    • 13144261691 scopus 로고    scopus 로고
    • FOXP3 acts as a rheostat of the immune response
    • DOI 10.1111/j.0105-2896.2005.00231.x
    • Ochs HD, Ziegler SF, Torgerson TR (2005) FOXP3 acts as a rheostat of the immune response. Immunol Rev 203:156-164 (Pubitemid 40179700)
    • (2005) Immunological Reviews , vol.203 , pp. 156-164
    • Ochs, H.D.1    Ziegler, S.F.2    Torgerson, T.R.3
  • 108
    • 33646240855 scopus 로고    scopus 로고
    • Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
    • Gavin MA, Torgerson TR et al (2006) Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci U S A 103: 6659-6664
    • (2006) Proc Natl Acad Sci U S a , vol.103 , pp. 6659-6664
    • Gavin, M.A.1    Torgerson, T.R.2
  • 109
    • 33846805925 scopus 로고    scopus 로고
    • CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes
    • DOI 10.1016/j.jaci.2006.10.007, PII S0091674906021191
    • Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119:482-487 (Pubitemid 46204802)
    • (2007) Journal of Allergy and Clinical Immunology , vol.119 , Issue.2 , pp. 482-487
    • Caudy, A.A.1    Reddy, S.T.2    Chatila, T.3    Atkinson, J.P.4    Verbsky, J.W.5
  • 110
    • 33750952330 scopus 로고    scopus 로고
    • Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation
    • Bernasconi A, Marino R et al (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 118:e1584-e1592
    • (2006) Pediatrics , vol.118
    • Bernasconi, A.1    Marino, R.2
  • 111
    • 0038054540 scopus 로고    scopus 로고
    • Cell-death signaling and human disease
    • DOI 10.1016/S0952-7915(03)00042-6
    • Rieux-Laucat F, Fischer A, Deist FL (2003) Cell-death signaling and human disease. Curr Opin Immunol 15:325-331 (Pubitemid 36645110)
    • (2003) Current Opinion in Immunology , vol.15 , Issue.3 , pp. 325-331
    • Rieux-Laucat, F.1    Fischer, A.2    Le, D.F.3
  • 112
    • 0035412359 scopus 로고    scopus 로고
    • The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis
    • Straus SE, Jaffe ES et al (2001) The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 98:194-200
    • (2001) Blood , vol.98 , pp. 194-200
    • Straus, S.E.1    Jaffe, E.S.2
  • 113
    • 77957746866 scopus 로고    scopus 로고
    • Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): Report from the 2009 NIH International Workshop
    • Oliveira JB, Bleesing JJ et al (2010) Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 116:e35-e40
    • (2010) Blood , vol.116
    • Oliveira, J.B.1    Bleesing, J.J.2
  • 114
    • 0034876118 scopus 로고    scopus 로고
    • TcR-alpha/beta(+)CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis
    • Bleesing JJ, Brown MR et al (2001) TcR-alpha/beta(+)CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol 100:314-324
    • (2001) Clin Immunol , vol.100 , pp. 314-324
    • Bleesing, J.J.1    Brown, M.R.2
  • 115
    • 0035889162 scopus 로고    scopus 로고
    • Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome
    • Bleesing JJ, Brown MR et al (2001) Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 98:2466-2473
    • (2001) Blood , vol.98 , pp. 2466-2473
    • Bleesing, J.J.1    Brown, M.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.