메뉴 건너뛰기




Volumn 185, Issue , 2002, Pages 206-219

Primary immunodeficiency diseases: Dissectors of the immune system

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; CD45 ANTIGEN; CYTOKINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; IMMUNOGLOBULIN M; INTERLEUKIN 7 RECEPTOR; JANUS KINASE; RECOMBINASE;

EID: 0036630392     PISSN: 01052896     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-065X.2002.18517.x     Document Type: Review
Times cited : (59)

References (127)
  • 2
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • (1954) Pediatrics , vol.13 , pp. 133
    • Aldrich, R.A.1    Steinberg, A.C.2
  • 4
    • 72849162727 scopus 로고
    • Un exemple d'agammaglobulinemie atypique (un cas de grande hypogammaglobulinemie avec augmentation de la β2 macroglobuline)
    • (1961) Rev Fr Etud Clin Biol , vol.6 , pp. 286-289
    • Burtin, P.1
  • 20
    • 0033522220 scopus 로고    scopus 로고
    • Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder
    • (1999) N Engl J Med , vol.340 , pp. 692-702
    • Grimbacher, B.1
  • 26
    • 0016756272 scopus 로고
    • Continuous cultures of fused cells secreting antibody of predefined specificity
    • (1975) Nature , vol.256 , pp. 495-497
    • Kohler, G.1    Milstein, C.2
  • 32
    • 0034597508 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases due to defects in lymphocytes
    • (2000) N Engl J Med , vol.343 , pp. 1313-1324
    • Buckley, R.H.1
  • 34
    • 0023251352 scopus 로고
    • The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
    • (1987) Nature , vol.327 , pp. 717-720
    • Dinauer, M.C.1    Orkin, S.H.2    Brown, R.3
  • 36
    • 0035675798 scopus 로고    scopus 로고
    • IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
    • (2001) Curr Opin Pediatr , vol.13 , pp. 533-538
    • Bennett, C.L.1    Ochs, H.D.2
  • 37
    • 0034526617 scopus 로고    scopus 로고
    • JM2, encoding a fork head-related protein, is mutated in x-linked autoimmunity-allergic disregulation syndrome
    • (2000) J Clin Invest , vol.106
    • Chatila, T.A.1
  • 42
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1
  • 43
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • (1995) Nature Genet , vol.10 , pp. 269-278
    • Budarf, M.L.1
  • 44
    • 15844403609 scopus 로고    scopus 로고
    • A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
    • (1996) Nat Genet , vol.13 , pp. 458-460
    • Daw, S.C.1
  • 46
    • 0004419978 scopus 로고    scopus 로고
    • A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
    • (1998) Nat Genet , vol.20 , pp. 273-277
    • Masternak, K.1
  • 48
    • 0029875067 scopus 로고    scopus 로고
    • Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70
    • (1996) Pediatr Res , vol.39 , pp. 743-748
    • Elder, M.E.1
  • 49
    • 0028857954 scopus 로고
    • Mutation of Jak3 in a patient with SCID. Essential role of Jak3 in lymphoid development
    • (1995) Science , vol.270 , pp. 797-800
    • Russell, S.M.1
  • 52
    • 0034162828 scopus 로고    scopus 로고
    • A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
    • (2000) Hum Mol Genet , vol.9 , pp. 583-588
    • Moshous, D.1
  • 53
    • 0034264851 scopus 로고    scopus 로고
    • Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
    • (2000) Cell , vol.102 , pp. 565-575
    • Revy, P.1
  • 54
    • 0033669973 scopus 로고    scopus 로고
    • Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
    • (2000) Clin Immunol , vol.97 , pp. 203-210
    • Minegishi, Y.1
  • 55
    • 0030455878 scopus 로고    scopus 로고
    • Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection
    • (1996) N Engl J Med , vol.335 , pp. 1956-1961
    • Jouanguy, E.1
  • 56
    • 0030467174 scopus 로고    scopus 로고
    • A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
    • (1996) N Engl J Med , vol.335 , pp. 1941-1949
    • Newport, M.J.1
  • 57
    • 18044383359 scopus 로고    scopus 로고
    • Primary immunodeficiency mutation databases
    • (2001) Adv Genet , vol.43 , pp. 103-188
    • Vihinen, M.1
  • 59
    • 0014259561 scopus 로고
    • Hereditary alterations in the immune response: Coexistence of agammaglobulinemia, acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship
    • (1968) Pediatr Res , vol.2 , pp. 72-84
    • Buckley, R.H.1    Sidbury, J.B.2
  • 60
    • 0035469882 scopus 로고    scopus 로고
    • Alterations of the X-linked lymphoproliferative disease gene SH2DLA in common variable immunodeficiency syndrome
    • (2001) Blood , vol.98 , pp. 1321-1325
    • Morra, M.1
  • 64
    • 0026463223 scopus 로고
    • Mapping of the X-linked form of hyper IgM syndrome (HIGM1) to Xq26 by dose linkage to HPRT
    • (1992) Genomics , vol.14 , pp. 551-553
    • Padayachee, M.1
  • 65
    • 0027414691 scopus 로고
    • CD40 ligand gene defects responsible for X-linked hyper IgM syndrome
    • (1993) Science , vol.259 , pp. 990-993
    • Allen, R.C.1
  • 68
    • 0027394391 scopus 로고
    • The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper IgM syndrome
    • (1993) Cell , vol.72 , pp. 291-300
    • Aruffo, A.1
  • 71
    • 0028146992 scopus 로고
    • Hyper IgM syndrome associated with defective CD40-mediated B cell activation
    • (1994) J Clin Invest , vol.94 , pp. 1404-1409
    • Conley, M.E.1
  • 72
    • 0029100744 scopus 로고
    • Immunodeficiency with hyperimmunoglobulinemia M in two female patients is not associated with abnormalities of CD40 or CD40 ligand expression
    • (1995) J Allerg Clin Immunol , vol.96 , pp. 403-410
    • Oliva, A.1
  • 73
    • 0035940417 scopus 로고    scopus 로고
    • Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 12614-12619
    • Ferrari, S.1
  • 74
    • 0030862399 scopus 로고    scopus 로고
    • Human severe combined immunodeficiency (SCID): Genetic, phenotypic and functional diversity in 108 infants
    • (1997) J Pediatr , vol.130 , pp. 378-387
    • Buckley, R.H.1
  • 75
    • 0033580206 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency
    • (1999) N Engl J Med , vol.340 , pp. 508-516
    • Buckley, R.H.1
  • 79
    • 0027403374 scopus 로고
    • Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1
  • 80
    • 0027320217 scopus 로고
    • The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX 1
    • (1993) Human Mol Genet , vol.2 , pp. 1099-1104
    • Puck, J.M.1
  • 81
    • 0027525387 scopus 로고
    • Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 cases
    • (1993) J Pediatr , vol.123 , pp. 564-572
    • Stephan, J.L.1
  • 87
    • 0027751556 scopus 로고
    • Interleukin-2 receptor gamma chain: A functional component of the interleukin-7 receptor
    • (1993) Science , vol.262 , pp. 1977-1880
    • Noguchi, M.1
  • 88
    • 10144253125 scopus 로고    scopus 로고
    • RAG mutations in human B cell-negative SCID
    • (1996) Sci , vol.274 , pp. 97-99
    • Schwarz, K.1
  • 89
    • 0034064779 scopus 로고    scopus 로고
    • Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
    • (2000) Nat Med , vol.6 , pp. 343-345
    • Kung, C.1
  • 90
    • 0028136274 scopus 로고
    • Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency
    • (1994) J Immunol , vol.153 , pp. 2331-2339
    • Shovlin, C.L.1
  • 91
    • 0029962080 scopus 로고    scopus 로고
    • The interleukin-2 receptor gamma chain: Its role in the multiple cytokine receptor complexes and T cell development in XSCID
    • (1996) Annu Rev Immunol , vol.14 , pp. 179-205
    • Sugamura, K.1
  • 92
    • 0035400054 scopus 로고    scopus 로고
    • Cutting edge: The common gamma-chain is an indispensable subunit of the IL-21 receptor complex
    • (2001) J Immunol , vol.167 , pp. 1-5
    • Asao, H.1
  • 93
    • 0029962080 scopus 로고    scopus 로고
    • The interleukin-2 receptor gamma chain: Its role in the multiple cytokine receptor complexes and T cell development in XSCID
    • (1996) Ann Rev Immunol , vol.14 , pp. 179-205
    • Sugamura, K.1
  • 94
    • 0030899948 scopus 로고    scopus 로고
    • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
    • (1997) Blood , vol.89 , pp. 1968-1977
    • Puck, J.M.1
  • 95
    • 0027787877 scopus 로고
    • Interleukin-2 receptor gamma chain: A functional component of the interleukin-4 receptor
    • (1993) Science , vol.262 , pp. 1880-1883
    • Russell, S.M.1
  • 96
    • 10544244162 scopus 로고    scopus 로고
    • Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
    • (1996) N Engl J Med , vol.335 , pp. 1563-1567
    • Stephan, V.1
  • 97
    • 0029164841 scopus 로고
    • Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
    • (1995) Nature , vol.377 , pp. 65-68
    • Macchi, P.1
  • 98
    • 0034501027 scopus 로고    scopus 로고
    • Of genes and phenotypes: The immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c) -JAK3 signaling pathway as a model
    • (2000) Immunol Rev , vol.178 , pp. 39-48
    • Notarangelo, L.D.1
  • 99
    • 0032577548 scopus 로고    scopus 로고
    • Partial V (D) J recombination activity leads to Omenn syndrome
    • (1998) Cell , vol.93 , pp. 885-896
    • Villa, A.1
  • 100
    • 0032527898 scopus 로고    scopus 로고
    • Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome
    • (1998) J Clin Invest , vol.102 , pp. 312-321
    • Rieux-Laucat, F.1
  • 103
    • 0032541313 scopus 로고    scopus 로고
    • A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V (D) J rearrangements defines a new DNA recombination/repair deficiency
    • (1998) J Exp Med , vol.188 , pp. 627-634
    • Nicolas, N.1
  • 114
    • 0017642631 scopus 로고
    • Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation
    • (1977) JAMA , vol.238 , pp. 591-600
    • Bortin, M.M.1    Rimm, A.A.2
  • 117
    • 0020691120 scopus 로고
    • Transplantation for severe combined immunodeficiency with HLA-A, B, D, DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells
    • (1983) Blood , vol.61 , pp. 341-348
    • Reisner, Y.1
  • 118
    • 0034446692 scopus 로고    scopus 로고
    • Advances in the understanding and treatment of human severe combined immunodeficiency
    • (2001) Immunol Res , vol.22 , pp. 237-251
    • Buckley, R.H.1
  • 121
    • 0024439437 scopus 로고
    • Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells
    • (1989) J Immunol , vol.143 , pp. 1575-1579
    • Roberts, J.L.1    Volkman, D.J.2    Buckley, R.H.3
  • 122
    • 0023160538 scopus 로고
    • Modified responses to recipient and donor B cells by genetically donor T cells from human haploidentical bone marrow chimeras
    • (1987) J Immunol , vol.138 , pp. 2088-2094
    • Schiff, S.E.1    Buckley, R.H.2
  • 126
    • 0037129435 scopus 로고    scopus 로고
    • Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
    • (2002) N Engl J Med , vol.346 , pp. 1185-1193
    • Hacein-Bey-Abina, S.1
  • 127
    • 0034724857 scopus 로고    scopus 로고
    • Gene therapy of human severe combined immunodeficiency (SCID) -X1 disease
    • (2000) Science , vol.288 , pp. 669-672
    • Cavazzana-Calvo, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.