{"doi":"10.1111/cei.12997","title":"Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations","abstract":"<jats:title>Summary</jats:title><jats:p>Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. While the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent, suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies, the underlying causes of immune dysregulation are beginning to emerge. Here we provide a review of the heterozygous mutations found in the immune checkpoint protein CTLA-4, identified in cases of common variable immunodeficiency disorders (CVID) with accompanying autoimmunity. Study of these mutations provides insights into the biology of CTLA-4 as well as suggesting approaches for rational treatment of these patients.</jats:p>","journal":"Clinical and Experimental Immunology","year":2017,"id":17913,"datarank":4.03546617079621,"base_score":4.90527477843843,"endowment":4.90527477843843,"self_citation_contribution":0.7357912167657645,"citation_network_contribution":3.2996749540304453,"self_endowment_contribution":0.7357912167657645,"citer_contribution":3.2996749540304453,"corpus_percentile":null,"corpus_rank":null,"citation_count":134,"citer_count":129,"citers_with_citation_signal":102,"citers_with_endowment":102,"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":126452,"name":"S O Burns","orcid":null,"position":1,"is_corresponding":false},{"id":126453,"name":"L S K Walker","orcid":null,"position":2,"is_corresponding":false},{"id":126454,"name":"D M Sansom","orcid":"0000-0001-6506-3115","position":3,"is_corresponding":false},{"id":126451,"name":"N Verma","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.90527477843843,"endowment":4.90527477843843,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28600865","pmcid":null,"openalex_id":"https://openalex.org/W2622275391","authors":[],"funders":[{"funder_name":"Medical Research Council","grant_id":"MR/N001435/1","title":null}],"total_grants":1,"fwci":4.4856,"citation_percentile":0.95509654,"influential_citations":5,"citation_trend":[{"year":2017,"count":4},{"year":2018,"count":10},{"year":2019,"count":12},{"year":2020,"count":14},{"year":2021,"count":33},{"year":2022,"count":19},{"year":2023,"count":18},{"year":2024,"count":8},{"year":2025,"count":9},{"year":2026,"count":6}],"oa_status":"bronze","license":"https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cei.12997","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cei.12997","host_type":"BRONZE"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cei.12997","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcei.12997","host_type":"publisher"},{"url":"https://academic.oup.com/cei/article-pdf/190/1/1/41644397/cei12997.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1111/cei.12997","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28600865","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5588810","host_type":"repository"}],"fields_of_study":["Immunodeficiency and Autoimmune Disorders","Blood disorders and treatments","Immune Cell Function and Interaction","Biology","Medicine","Animals","Autoimmunity","CTLA-4 Antigen","Common Variable Immunodeficiency","Humans","Immunotherapy","Lymphocyte Activation","Mutation","Signal Transduction","T-Lymphocytes"],"mesh_terms":["Animals","Humans","Immunotherapy","Lymphocyte Activation","Mutation","T-Lymphocytes","Signal Transduction","Autoimmunity","Common Variable Immunodeficiency","CTLA-4 Antigen"],"keywords":["Autoimmunity","Immunology","Immune dysregulation","Immune system","CTLA-4","Common variable immunodeficiency","Immunodeficiency","Genetic predisposition","Primary immunodeficiency","Biology","Medicine","T cell","Genetics","Antibody","Gene","T cells","Co-stimulation","Regulatory T cells","Immunodeficiency Diseases"],"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":"2026-06-03T02:13:49.207246Z","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":[]}