Human RAG mutations: biochemistry and clinical implications.

Abstract excerpt

The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V(D)J recombination process, which ultimately enables the generation of T cells and B cells with a diversified repertoire of antigen-specific receptors. Mutations of the RAG genes in humans are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to autoimmunity. Recently, novel insights...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to B-Lymphocytes
• Share to Genetic Therapy
• Share to Homeodomain Proteins