Patients with severe combined immunodeficiency (SCID) disease have classically been
divided into those with residual B cells (TÀB+ phenotype) and those whose defects produce …

In vertebrates, generation of the T-and B-cell repertoire relies on genomic rearrangement of
T-cell receptor and immunoglobulin gene coding segments. This process, known as V (D) J …

Recombinase-activating gene-1 (RAG1)-deficient severe combined immunodeficiency
(SCID) patients lack B and T lymphocytes due to the inability to rearrange immunoglobulin …

Genomic rearrangement of the antigen receptor loci is initiated by the two lymphoid-specific
proteins Rag-1 and Rag-2. Null mutations in either of the two proteins abrogate initiation of V …

Hypomorphic RAG mutations, leading to limited V (D) J rearrangements, cause Omenn
syndrome (OS), a peculiar severe combined immunodeficiency associated with autoimmune …

Abstract The V (D) J recombination reaction is composed of multiple nucleolytic processing
steps mediated by the recombination-activating proteins RAG1 and RAG2. Sequence …

Null mutations in genes involved in V (D) J recombination cause a block in B-and T-cell
development, clinically presenting as severe combined immunodeficiency (SCID) …

Autoimmune and immunodeficiency diseases are outcomes of a dysfunctional immune
system and represent 2 sides of the same coin. Multiple single-gene defects have been …

Background Mutations in the recombinase-activating genes cause severe
immunodeficiency, with a spectrum of phenotypes ranging from severe combined …

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable
immunodeficiency in IL-10 and IL-13 regulation in monocytes. Therefore we treated PBMCs …