Summary RAG-1 and RAG-2 are developmentally regulated genes that are essential for the
assembly of antigen receptors in lymphoid cells. Here we describe transgenic mice that …

During B cell and T cell development, the lymphoid-specific proteins RAG-1 and RAG-2 act
together to initiate the assembly of antigen receptor genes through a series of site-specific …

Patients with human severe combined immunodeficiency (SCID) can be divided into those
with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic …

The recombinase activating genes RAG-1 and RAG-2 operate together to activate V (D) J
recombination, and thus play an essential role in the generation of immune system diversity …

Omenn syndrome (OS) is a form of severe combined immunodeficiency (SCID)
characterized by erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In …

Mutations in the human RAG genes that impair, but do not abolish, recombination activity
lead to Omenn syndrome, a severe primary immune deficiency that is associated with …

A girl presented during childhood with a single course of extensive chickenpox and
moderate albeit recurrent pneumonia in the presence of idiopathic CD4+ T lymphocytopenia …

Background Human immunodeficiencies characterized by hypomorphic mutations in critical
developmental and signaling pathway genes allow for the dissection of the role of these …

Hypomorphic RAG1 mutations allowing residual T-and B-cell development have been found
in patients presenting with delayed-onset combined immune deficiency with granulomas …

Adaptive immunity is intimately linked to the expression of antigen-specific immunoglobulin
and T cell receptor genes and their recombination assembly from germline V, D and J gene …