Article
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.
Blood - 15 Sept 2002
Noordzij Jeroen G, de Bruin-Versteeg Sandra, Verkaik Nicole S, Vossen Jaak M J J, de Groot Ronald, Bernatowska Ewa, Langerak Anton W, van Gent Dik C, van Dongen Jacques J M
Abstract excerpt
The protein products of the recombination activating genes (RAG1 and RAG2) initiate the formation of immunoglobulin (Ig) and T-cell receptors, which are 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....
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