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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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F1000 Research Limited
2019
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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. |
format | Online Article Text |
id | pubmed-6364374 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | F1000 Research Limited |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT genneryandrew recentadvancesinunderstandingragdeficiencies |