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Volumn 178, Issue , 2000, Pages 64-74

The genetic and biochemical basis of Omenn syndrome

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; COMBINED IMMUNODEFICIENCY; ERYTHRODERMA; GENE MUTATION; GENE REARRANGEMENT; GENE THERAPY; GENETIC RECOMBINATION; HEPATOSPLENOMEGALY; HUMAN; HYPEREOSINOPHILIA; HYPERIMMUNOGLOBULINEMIA E; IMMUNOGENETICS; LYMPHADENOPATHY; MISSENSE MUTATION; OMENN SYNDROME; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; REVIEW; SYNDROME; THYMUS;

EID: 0034501028     PISSN: 01052896     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-065X.2000.17818.x     Document Type: Review
Times cited : (57)

References (119)
  • 2
    • 10144253125 scopus 로고    scopus 로고
    • RAG mutations in human B cell-negative SCID
    • (1996) Science , vol.274 , pp. 97-99
    • Schwarz, K.1
  • 5
    • 0033942616 scopus 로고    scopus 로고
    • Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies
    • (2000) Mol Cell Biol , vol.20 , pp. 5653-5664
    • Gomez, C.A.1
  • 7
    • 0033387958 scopus 로고    scopus 로고
    • The RAG1/RAG2 complex constitutes a 3′ flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination
    • (1999) Mol Cell , vol.4 , pp. 935-947
    • Santagata, S.1
  • 8
    • 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
  • 9
    • 4243686866 scopus 로고    scopus 로고
    • N-terminal RAG1 frameshift mutations in Omenn syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
    • In press
    • Proc Natl Acad Sci USA
    • Santagata, S.1
  • 10
    • 0025779736 scopus 로고
    • Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
    • (1991) J Clin Invest , vol.87 , pp. 1352-1359
    • De Saint-Basile1
  • 13
    • 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-Lancat, F.1
  • 14
    • 0033571562 scopus 로고    scopus 로고
    • Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome
    • (1999) Blood , vol.94 , pp. 3468-3478
    • Signorini, S.1
  • 15
    • 0033959361 scopus 로고    scopus 로고
    • Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders
    • (2000) Clin Exp Immunol , vol.19 , pp. 148-155
    • Wade, T.1
  • 16
    • 85117739100 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: A severe immunodeficiency with a spectrum of clinical presentations
    • In press
    • Blood
    • Villa, A.1
  • 19
    • 0030664225 scopus 로고    scopus 로고
    • In vitro cell death of activated lymphocytes in Omenn's syndrome
    • (1997) Eur J Immunol , vol.27 , pp. 2765-2773
    • Brugnoni, D.1
  • 20
    • 0030059612 scopus 로고    scopus 로고
    • CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: Evidence for a T helper 2-mediated condition
    • (1996) Eur J Immunol , vol.26 , pp. 329-334
    • Chilosi, M.1
  • 21
    • 0027497719 scopus 로고
    • T helper type 2-like cells and therapeutic effects of interferon-γ in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
    • (1993) Eur J Immunol , vol.23 , pp. 56-60
    • Schandene, L.1
  • 22
    • 0020534965 scopus 로고
    • Somatic generation of antibody diversity
    • (1983) Nature , vol.302 , pp. 575-581
    • Tonegawa, S.1
  • 25
    • 0028456421 scopus 로고
    • P nucleotides, hairpin DNA and V(D)J joining: Making the connection
    • (1994) Semin Immunol , vol.6 , pp. 131-141
    • Lewis, S.M.1
  • 30
    • 0032555758 scopus 로고    scopus 로고
    • DNA transposition by the RAG1 and RAG2 proteins: A possible source of oncogenic translocations
    • (1998) Cell , vol.94 , pp. 463-470
    • Hiom, K.1    Melek, M.2    Gellert, M.3
  • 31
    • 0028867419 scopus 로고
    • New insights into V(D)J recombination and its role in the evolution of the immune system
    • (1995) Immunity , vol.3 , pp. 531-539
    • Thompson, C.B.1
  • 32
    • 0034625261 scopus 로고    scopus 로고
    • RAG1/2-mediated resolution of transposition intermediates: Two pathways and possible consequences
    • (2000) Cell , vol.101 , pp. 625-633
    • Melek, M.1    Gellert, M.2
  • 33
    • 0028172537 scopus 로고
    • Essential residues in V(D)J recombination signals
    • (1994) J Immunol , vol.153 , pp. 4520-4529
    • Akamatsu, Y.1
  • 41
    • 0034214049 scopus 로고    scopus 로고
    • Recombination signal sequences restrict chromosomal V(D)J recombination beyond the 12/23 rule
    • (2000) Nature , vol.405 , pp. 583-586
    • Bassing, C.H.1
  • 46
    • 0030964130 scopus 로고    scopus 로고
    • A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage
    • (1997) Cell , vol.88 , pp. 65-72
    • Hiom, K.1    Gellert, M.2
  • 53
    • 0032126295 scopus 로고    scopus 로고
    • V(D)J recombination signal recognition: Distinct, overlapping DNA-protein contacts in complexes containing RAG1 with and without RAG2
    • (1998) Immunity , vol.9 , pp. 115-125
    • Swanson, P.C.1    Desiderio, S.2
  • 60
    • 0032084698 scopus 로고    scopus 로고
    • Assembly of a 12/23 paired signal complex: A critical control point in V(D)J recombination
    • (1998) Mol Cell , vol.1 , pp. 1011-1019
    • Hiom, K.1    Gellert, M.2
  • 61
    • 0028805853 scopus 로고
    • Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps
    • (1995) Cell , vol.83 , pp. 387-395
    • McBlane, J.F.1
  • 62
    • 0032247578 scopus 로고    scopus 로고
    • Hairpin coding end opening is mediated by RAG1 and RAG2 proteins
    • (1998) Mol Cell , vol.2 , pp. 817-828
    • Besmer, E.1
  • 64
    • 0032085295 scopus 로고    scopus 로고
    • The 3′ to 5′ exonuclease activity of Mre 11 facilitates repair of DNA double-strand breaks
    • (1998) Mol Cell , vol.1 , pp. 969-979
    • Paull, T.T.1    Gellert, M.2
  • 65
    • 0033563229 scopus 로고    scopus 로고
    • Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex
    • (1999) Genes Dev , vol.13 , pp. 1276-1288
    • Paull, T.T.1    Gellert, M.2
  • 66
    • 0031104841 scopus 로고    scopus 로고
    • The FEN-1 family of structure-specific nucleases in eukaryotic DNA replication, recombination and repair
    • (1997) Bioassays , vol.19 , pp. 233-240
    • Lieber, M.R.1
  • 70
    • 0030887862 scopus 로고    scopus 로고
    • RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination
    • (1997) Cell , vol.89 , pp. 43-53
    • Agrawal, A.1    Schatz, D.G.2
  • 73
    • 0033166623 scopus 로고    scopus 로고
    • Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient
    • (1999) Curr Biol , vol.9 , pp. 699-702
    • Riballo, E.1
  • 74
    • 0032511976 scopus 로고    scopus 로고
    • Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV
    • (1998) Nature , vol.396 , pp. 173-177
    • Frank, K.1
  • 75
    • 0032417640 scopus 로고    scopus 로고
    • A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
    • (1998) Cell , vol.95 , pp. 891-902
    • Gao, Y.1
  • 89
    • 0029553231 scopus 로고
    • Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2
    • (1995) Immunity , vol.3 , pp. 715-726
    • Spanopoulou, E.1
  • 92
    • 0031712128 scopus 로고    scopus 로고
    • The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis
    • (1998) Cell Mol Life Sci , vol.54 , pp. 880-891
    • Callebaut, I.1    Mornon, J.P.2
  • 94
    • 0029858585 scopus 로고    scopus 로고
    • KAP-1, a novel corepressor for the highly conserved KRAB repression domain
    • (1996) Genes Dev , vol.10 , pp. 2067-2078
    • Friedman, J.R.1
  • 95
    • 0031255159 scopus 로고    scopus 로고
    • Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
    • (1997) Nat Genet , vol.17 , pp. 146-148
    • Gibbons, R.J.1
  • 96
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 98
    • 0030020897 scopus 로고    scopus 로고
    • ClpX protein of Escherichia coli activates bacteriophage Mu transposase in the strand transfer complex for initiation of Mu DNA synthesis
    • (1996) EMBO J , vol.15 , pp. 935-944
    • Kruklitis, R.1    Welty, D.J.2    Nakai, H.3
  • 102
    • 0026581936 scopus 로고
    • RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement
    • (1992) Cell , vol.68 , pp. 855-867
    • Shinkai, Y.1
  • 104
    • 0028357488 scopus 로고
    • Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency
    • (1994) J Immunol , vol.152 , pp. 5504-5513
    • Abe, T.1
  • 106
    • 0023812570 scopus 로고
    • Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
    • (1988) Science , vol.242 , pp. 755-759
    • Malhotra, S.B.1
  • 107
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1
  • 109
    • 0026084786 scopus 로고
    • Novel thioether bond revealed by a 1.7 Å crystal structure of galactose oxidase
    • (1991) Nature , vol.350 , pp. 87-90
    • Ito, N.1
  • 111
    • 0020478796 scopus 로고
    • Antenatal diagnosis of severe combined immunodeficiency from fetal cord blood
    • (1982) Lancet , vol.1 , pp. 852-853
    • Durandy, A.1
  • 114
    • 0033969135 scopus 로고    scopus 로고
    • Prenatal diagnosis of RAG-deficient Omenn syndrome
    • (2000) Prenat Diagn , vol.20 , pp. 56-59
    • Villa, A.1
  • 115
    • 0033580210 scopus 로고    scopus 로고
    • Thirty years of borne marrow transplantation for severe combined immunodeficiency
    • (1999) N Engl J Med , vol.340 , pp. 559-561
    • Fischer, A.1
  • 117
    • 16144362330 scopus 로고    scopus 로고
    • In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI)
    • (1996) Lancet , vol.348 , pp. 1484-1487
    • Wengler, G.S.1
  • 119
    • 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


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