Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

Zapytanie: DONGEN
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Tytuł oryginału: The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Autorzy: Noordzij Jeroen G., Bruin-Versteeg Sandra de, Verkaik Nicole S., Vossen Jaak M. J. J., Groot Ronald de, Bernatowska Ewa, Langerak Anton W., Gent Dik C. van, Dongen Jacques J. M. van
Źródło: Blood 2002: 100 (6) s.2145-2152, il., tab., bibliogr. 45 poz.
Sygnatura GBL: 301,770

Hasła klasyfikacyjne GBL:
  • genetyka
  • immunologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: The protein products of the recombination activating genes (RAG1 and RAG2) initiate the formation of immunoglobulin (lg) and T-cell receptors, whichare essential for B- and t-cell development, respectively. Mutations in the RAG genes result in severe combined immunodeficiency disease (SCID), generally characterized by the absence of mature B and T lymphocytes, but presence of natural killer (NK) cells. Biochemically, mutations in the RAG genes result either in nonfunctional proteins or in proteins with partial recombination activity. The mutated RAG genes of 9 patients from 7 families were analyzed for their recombination activity using extrachromosomal recombination substrates, rearrangment of endogenous Ig loci in RAG gene-transfected nonlymphoid cells, or the presence of Ig gene rearrangements in bone marrow (BM). Recombination activity was virtually absent in all 6 patients with mutations in the RAG core domains, but partial activity was present in the other 3 RAG-deficient patients, 2 of them having Omenn syndrome with oligocional T lymphocytes. Using 4-color flow cytometry, we could define the exact stage at which B-cell differentiation was arrested in the BM of 5 RAG-deficient SCID patients. In 4 of 5 patients, the absence of recombination activity was associated with a complete B-cell differentiation arrest at the transition from cytoplasmic (Cy) Igć- pre -B-I cells to Cylgć+ pre -B-II cells. However, the fifth patient showed low frequencies of precursor B cells with Cylgć and surface membrane IgM...

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    Tytuł oryginału: Comparative analysis of Ig and TCR gene rearrangements at diagnosis and at relapse of childhood precursor-B-ALL provides improved strategies for selection of stable PCR targets for monitoring of minimal residual disease.
    Autorzy: Szczepański Tomasz, Willemse Marja J., Brinkhof Bas, Wering Elisabeth R. van, Burg Mirjam van der, Dongen Jacques J. M. van
    Źródło: Blood 2002: 99 (7) s.2315-2323, il., tab., bibliogr. 47 poz.
    Sygnatura GBL: 301,770

    Hasła klasyfikacyjne GBL:
  • pediatria
  • genetyka
  • hematologia
  • onkologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • niemowlęta
  • dzieci 2-5 r.ż.
  • dzieci 6-12 r.ż.
  • dzieci 13-18 r.ż.

    Streszczenie angielskie: Immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements are excellent patient-specific polymerase chain reaction (PCR) targets for detection of minimal residual disease (MRD) in acute lymphoblastic leukemia (ALL), but they might be unstable during the disease course. Therefore, we performed detailed molecular studies in 96 childhood precusor-B-ALL at diagnosis and at relapse (n = 91) or at presumably secondary acute myeloid leukemia (n = 5). Clonal Ig and TCR tatgets for MRD detection were identified in 94 patients, with 71 p.c. of these targets being preserved at relapse. The best stability was found for IGK-Kde rearrangements (90 p.c.), followed by TCRG (75 p.c.), IGH (64 p.c.), and incomplete TCRD rearrangements (63 p.c.). Combined Southern blot and PCR data for IGH, IGK-Kde, and TCRD genes showed significant differences in stability at relapse between monoclonal and oligoclonal rearrangements: 89 p.c. versus 40 p.c., respectively. In 38 p.c. of patients all MRD-PCR targets were preserved at relapse, and in 40 p.c. most of the targets (ň 50 p.c.) were preserved. In 22 p.c. of patients most targets (10 cases) or all targets (10 cases) were lost at relapse. The latter 10 cases included 4 patients with secondary acute myeloid leukemia with germiline Ig/TCR genes. In 5 other patients additional analyses proved the clonal relationship between both disease stages. Finally, in 1 patient all Ig/TCR gene rearrangements were completely different between diagnosis and relapse, which is suggestive of secondary ALL...

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