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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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