Characterization of T and B cell repertoire diversity in patients with RAG deficiency

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Science Immunology  16 Dec 2016:
Vol. 1, Issue 6, eaah6109
DOI: 10.1126/sciimmunol.aah6109

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Taking SCID genetics to the clinic

Mutations that lead to deficiencies in the recombination-activating genes RAG1 and RAG2 result in a spectrum of immunodeficiencies ranging from loss of T and/or B cell repertoire diversity to a complete lack of T and B cells—severe combined immunodeficiency (SCID). Here, Lee et al. perform next-generation B and T cell repertoire sequencing on 12 patients with RAG mutations who have immunodeficiencies of varying severity. They found that the level of repertoire skewing was associated with the severity of disease and that specific repertoire deficiencies were associated with particular phenotypes. These data support a genotype-phenotype connection for primary immunodeficiencies.