{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T13:07:32Z","timestamp":1777122452651,"version":"3.51.4"},"reference-count":82,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T00:00:00Z","timestamp":1549238400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"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>","DOI":"10.12688\/f1000research.17056.1","type":"journal-article","created":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T07:25:33Z","timestamp":1549265133000},"page":"148","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":38,"title":["Recent advances in understanding RAG deficiencies"],"prefix":"10.12688","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6218-1324","authenticated-orcid":false,"given":"Andrew","family":"Gennery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2019,2,4]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"97-9","DOI":"10.1126\/science.274.5284.97","article-title":"RAG Mutations in Human B Cell-Negative SCID.","volume":"274","author":"K 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