Human RAG mutations: biochemistry and clinical implications

Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28.

Luigi D Notarangelo ¹, Min-Sung Kim ², Jolan E Walter ¹ ³, Yu Nee Lee ¹

Affiliations

1 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
2 Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health, Bethesda, Maryland 20892, USA.
3 Pediatric Allergy and Immunology, and the Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

PMID: 26996199 DOI: 10.1038/nri.2016.28

Abstract

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 crystal structure of the RAG complex, by developing novel assays to test recombination activity of the mutant RAG proteins and by characterizing the molecular and cellular basis of immune dysregulation in patients with RAG deficiency.

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