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
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. Biochemically, mutations in the RAG
genes result either in nonfunctional proteins or in protein