{"doi":"10.1016/j.clim.2010.11.005","title":"Analysis of mutations and recombination activity in RAG-deficient patients","abstract":null,"journal":"Clinical Immunology","year":2011,"id":642194,"datarank":0.4887144807032224,"base_score":3.258096538021482,"endowment":3.258096538021482,"self_citation_contribution":0.4887144807032224,"citation_network_contribution":0.0,"self_endowment_contribution":0.4887144807032224,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":25,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1670171,"name":"Taizo Wada","orcid":null,"position":1,"is_corresponding":false},{"id":1670172,"name":"Yasuhisa Sakakibara","orcid":null,"position":2,"is_corresponding":false},{"id":1670175,"name":"Akiko Toga","orcid":null,"position":3,"is_corresponding":false},{"id":1670176,"name":"Tomoko Toma","orcid":null,"position":4,"is_corresponding":false},{"id":934687,"name":"Takashi Shimizu","orcid":"0000-0003-1294-0799","position":5,"is_corresponding":false},{"id":316766,"name":"Sheela Nampoothiri","orcid":"0000-0002-9575-0722","position":6,"is_corresponding":false},{"id":649222,"name":"Kohsuke Imai","orcid":"0000-0003-2132-8403","position":7,"is_corresponding":false},{"id":910374,"name":"Shigeaki Nonoyama","orcid":"0000-0001-9698-366X","position":8,"is_corresponding":false},{"id":57372,"name":"Tomohiro Morio","orcid":"0000-0002-9259-1025","position":9,"is_corresponding":false},{"id":317920,"name":"Hideki Muramatsu","orcid":"0000-0002-8801-0021","position":10,"is_corresponding":false},{"id":1670177,"name":"Yoshiro Kamachi","orcid":null,"position":11,"is_corresponding":false},{"id":749454,"name":"Osamu Ohara","orcid":"0000-0002-3328-9571","position":12,"is_corresponding":false},{"id":1670178,"name":"Akihiro Yachie","orcid":null,"position":13,"is_corresponding":false},{"id":1670169,"name":"Erika Asai","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Analysis of mutations and recombination activity in RAG-deficient patients","abstract":"Mutations in the recombination activating genes (RAG1 or RAG2) can lead to a variety of immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of Omenn syndrome, 1 of severe combined immunodeficiency, and 1 of combined immunodeficiency with oligoclonal TCRγδ(+) T cells, autoimmunity and cytomegalovirus infection. The genetic defects were heterogeneous and included 6 novel RAG mutations. All missense mutations except for Met443Ile in RAG2 were located in active core regions of RAG1 or RAG2. V(D)J recombination activity of each mutant was variable, ranging from half of the wild type activity to none, however, a significant decrease in average recombination activity was demonstrated in each patient. The reduced recombination activity of Met443Ile in RAG2 may suggest a crucial role of the non-core region of RAG2 in V(D)J recombination. These findings suggest that functional evaluation together with molecular analysis contributes to our broader understanding of RAG deficiency.","is_dataset_classified":null,"base_score":3.258096538021482,"endowment":3.258096538021482,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21131235","pmcid":null,"openalex_id":"https://openalex.org/W2075689971","authors":[],"funders":[{"funder_name":"Ministry of Education, Culture, Sports, Science and Technology","grant_id":"","title":null},{"funder_name":"Ministry of Health, Labour and Welfare","grant_id":"","title":null}],"total_grants":2,"fwci":0.8214,"citation_percentile":0.72297489,"influential_citations":0,"citation_trend":[{"year":2012,"count":3},{"year":2013,"count":3},{"year":2014,"count":2},{"year":2015,"count":3},{"year":2016,"count":2},{"year":2017,"count":1},{"year":2018,"count":3},{"year":2019,"count":2},{"year":2021,"count":1},{"year":2022,"count":2},{"year":2023,"count":1},{"year":2024,"count":1}],"oa_status":"green","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://kanazawa-u.repo.nii.ac.jp/records/27079","host_type":"repository"},{"url":"https://kanazawa-u.repo.nii.ac.jp/records/27079","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S1521661610007655?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1521661610007655?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.clim.2010.11.005","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21131235","host_type":"repository"}],"fields_of_study":["Immunodeficiency and Autoimmune Disorders","Immune Cell Function and Interaction","Blood disorders and treatments","Autoimmunity","B-Lymphocytes","Child, Preschool","Cytomegalovirus Infections","DNA Mutational Analysis","DNA-Binding Proteins","Female","Homeodomain Proteins","Humans","Infant","Infant, Newborn","Male","Mutation","Nuclear Proteins","Severe Combined Immunodeficiency"],"mesh_terms":["B-Lymphocytes","Child, Preschool","Cytomegalovirus Infections","DNA Mutational Analysis","DNA-Binding Proteins","Female","Humans","Infant","Infant, Newborn","Male","Mutation","Nuclear Proteins","Autoimmunity","Severe Combined Immunodeficiency","Homeodomain Proteins"],"keywords":["RAG2","Recombination-activating gene","Recombination","V(D)J recombination","Missense mutation","Biology","Primary immunodeficiency","Mutation","Genetics","Recombination signal sequences","Severe combined immunodeficiency","Immunodeficiency","Mutant","Autoimmunity","Gene","Virology","Antibody","Immune system"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-07T21:53:08.917146Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}