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- W2913565584 abstract "<ns4:p>Recombination-activating genes (<ns4:italic>RAG</ns4:italic>)<ns4:italic>1</ns4:italic> and <ns4:italic>RAG2 </ns4:italic>initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in <ns4:italic>RAG1</ns4:italic>/<ns4:italic>RAG2</ns4:italic> cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in <ns4:italic>RAG</ns4:italic> 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 <ns4:italic>RAG1/2</ns4:italic> 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.</ns4:p>" @default.
- W2913565584 created "2019-02-21" @default.
- W2913565584 creator A5013983797 @default.
- W2913565584 date "2019-02-04" @default.
- W2913565584 modified "2023-09-23" @default.
- W2913565584 title "Recent advances in understanding RAG deficiencies" @default.
- W2913565584 cites W1588465409 @default.
- W2913565584 cites W1605124125 @default.
- W2913565584 cites W1904972848 @default.
- W2913565584 cites W1955143966 @default.
- W2913565584 cites W1961087288 @default.
- W2913565584 cites W1963950123 @default.
- W2913565584 cites W1965482656 @default.
- W2913565584 cites W1966392591 @default.
- W2913565584 cites W1972070781 @default.
- W2913565584 cites W1972601459 @default.
- W2913565584 cites W1976886094 @default.
- W2913565584 cites W1980105003 @default.
- W2913565584 cites W1980715668 @default.
- W2913565584 cites W1985459820 @default.
- W2913565584 cites W1992344625 @default.
- W2913565584 cites W1995025510 @default.
- W2913565584 cites W1996059130 @default.
- W2913565584 cites W1996073092 @default.
- W2913565584 cites W1999687988 @default.
- W2913565584 cites W2005942970 @default.
- W2913565584 cites W2017363388 @default.
- W2913565584 cites W2018703348 @default.
- W2913565584 cites W2033193372 @default.
- W2913565584 cites W2033926666 @default.
- W2913565584 cites W2039518116 @default.
- W2913565584 cites W2041097568 @default.
- W2913565584 cites W20462131 @default.
- W2913565584 cites W2047546168 @default.
- W2913565584 cites W2065910655 @default.
- W2913565584 cites W2069109607 @default.
- W2913565584 cites W2073643492 @default.
- W2913565584 cites W2083345299 @default.
- W2913565584 cites W2084438405 @default.
- W2913565584 cites W2087957313 @default.
- W2913565584 cites W2094342390 @default.
- W2913565584 cites W2097615268 @default.
- W2913565584 cites W2099493127 @default.
- W2913565584 cites W2100304556 @default.
- W2913565584 cites W2100462578 @default.
- W2913565584 cites W2102046770 @default.
- W2913565584 cites W2103197942 @default.
- W2913565584 cites W2117772274 @default.
- W2913565584 cites W2117904026 @default.
- W2913565584 cites W2121477549 @default.
- W2913565584 cites W2122153475 @default.
- W2913565584 cites W2127932958 @default.
- W2913565584 cites W2134198298 @default.
- W2913565584 cites W2134376529 @default.
- W2913565584 cites W2141459307 @default.
- W2913565584 cites W2154794733 @default.
- W2913565584 cites W2155246914 @default.
- W2913565584 cites W2158508385 @default.
- W2913565584 cites W2161560668 @default.
- W2913565584 cites W2162058869 @default.
- W2913565584 cites W2163195167 @default.
- W2913565584 cites W2165214298 @default.
- W2913565584 cites W2165603811 @default.
- W2913565584 cites W2166081186 @default.
- W2913565584 cites W2169272918 @default.
- W2913565584 cites W2170746309 @default.
- W2913565584 cites W2265065660 @default.
- W2913565584 cites W2289683975 @default.
- W2913565584 cites W2341474073 @default.
- W2913565584 cites W2344579973 @default.
- W2913565584 cites W2467278060 @default.
- W2913565584 cites W2472403457 @default.
- W2913565584 cites W2528317602 @default.
- W2913565584 cites W2528583328 @default.
- W2913565584 cites W2562466714 @default.
- W2913565584 cites W2591207727 @default.
- W2913565584 cites W2738629186 @default.
- W2913565584 cites W2752981524 @default.
- W2913565584 cites W2774035015 @default.
- W2913565584 cites W2787319108 @default.
- W2913565584 cites W2799833054 @default.
- W2913565584 cites W2802341098 @default.
- W2913565584 cites W2802695909 @default.
- W2913565584 cites W2808164963 @default.
- W2913565584 cites W2887096319 @default.
- W2913565584 cites W2889412507 @default.
- W2913565584 doi "https://doi.org/10.12688/f1000research.17056.1" @default.
- W2913565584 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6364374" @default.
- W2913565584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30800289" @default.
- W2913565584 hasPublicationYear "2019" @default.
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