Human RAG mutations: biochemistry and clinical implications.
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ABSTRACT:
SUBMITTER: Notarangelo LD
PROVIDER: S-EPMC5757527 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Publications
Human RAG mutations: biochemistry and clinical implications.
Notarangelo Luigi D LD Kim Min-Sung MS Walter Jolan E JE Lee Yu Nee YN
Nature reviews. Immunology 20160321 4
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 into the phenotypic diversity of this disease have been provided by resolving the cryst ...[more]
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