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Recent advances in understanding RAG deficiencies

Recombination-activating genes ( RAG) 1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-s...

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Autor principal: Gennery, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364374/
https://www.ncbi.nlm.nih.gov/pubmed/30800289
http://dx.doi.org/10.12688/f1000research.17056.1
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author Gennery, Andrew
author_facet Gennery, Andrew
author_sort Gennery, Andrew
collection PubMed
description Recombination-activating genes ( RAG) 1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in RAG genes are now recognized. The degree of residual protein function may permit some lymphocyte receptor formation, which confers a less-severe clinical phenotype. Many of the non-SCID phenotypes are associated with autoimmunity. New findings into the effect of mutations in RAG1/2 on the developing T- and B-lymphocyte receptor give insight into the development of autoimmunity. This article summarizes recent findings and places the genetic and molecular findings in a clinical context.
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spelling pubmed-63643742019-02-21 Recent advances in understanding RAG deficiencies Gennery, Andrew F1000Res Review Recombination-activating genes ( RAG) 1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in RAG genes are now recognized. The degree of residual protein function may permit some lymphocyte receptor formation, which confers a less-severe clinical phenotype. Many of the non-SCID phenotypes are associated with autoimmunity. New findings into the effect of mutations in RAG1/2 on the developing T- and B-lymphocyte receptor give insight into the development of autoimmunity. This article summarizes recent findings and places the genetic and molecular findings in a clinical context. F1000 Research Limited 2019-02-04 /pmc/articles/PMC6364374/ /pubmed/30800289 http://dx.doi.org/10.12688/f1000research.17056.1 Text en Copyright: © 2019 Gennery A http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Gennery, Andrew
Recent advances in understanding RAG deficiencies
title Recent advances in understanding RAG deficiencies
title_full Recent advances in understanding RAG deficiencies
title_fullStr Recent advances in understanding RAG deficiencies
title_full_unstemmed Recent advances in understanding RAG deficiencies
title_short Recent advances in understanding RAG deficiencies
title_sort recent advances in understanding rag deficiencies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364374/
https://www.ncbi.nlm.nih.gov/pubmed/30800289
http://dx.doi.org/10.12688/f1000research.17056.1
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