{"doi":"10.1038/s41584-024-01168-8","title":"Somatic mutations in autoinflammatory and autoimmune disease","abstract":null,"journal":"Nature Reviews Rheumatology","year":2024,"id":598758,"datarank":0.49983067652628066,"base_score":3.332204510175204,"endowment":3.332204510175204,"self_citation_contribution":0.49983067652628066,"citation_network_contribution":0.0,"self_endowment_contribution":0.49983067652628066,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":27,"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":1534501,"name":"Flore S. Castellan","orcid":"0000-0001-8764-6151","position":1,"is_corresponding":false},{"id":218268,"name":"Ivona Aksentijevich","orcid":"0000-0002-6564-7214","position":2,"is_corresponding":false},{"id":218218,"name":"David B. Beck","orcid":"0000-0002-5884-6231","position":3,"is_corresponding":false},{"id":297408,"name":"Sofia Torreggiani","orcid":"0000-0003-0439-4046","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Somatic mutations in autoinflammatory and autoimmune disease","abstract":"Somatic mutations (also known as acquired mutations) are emerging as common, age-related processes that occur in all cells throughout the body. Somatic mutations are canonically linked to malignant processes but over the past decade have been increasingly causally connected to benign diseases including rheumatic conditions. Here we outline the contribution of somatic mutations to complex and monogenic immunological diseases with a detailed review of unique aspects associated with such causes. Somatic mutations can cause early- or late-onset rheumatic monogenic diseases but also contribute to the pathogenesis of complex inflammatory and immune-mediated diseases, affect disease progression and define new clinical subtypes. Although even variants with a low variant allele fraction can be pathogenic, clonal dynamics could lead to changes over time in the proportion of mutant cells, with possible phenotypic consequences for the individual. Thus, somatic mutagenesis and clonal expansion have relevant implications in genetic testing and counselling. On the basis of both increased recognition of somatic diseases in clinical practice and improved technical and bioinformatic processes, we hypothesize that there will be an ever-expanding list of somatic mutations in various genes leading to inflammatory conditions, particularly in late-onset disease.","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":"39394526","pmcid":null,"openalex_id":"https://openalex.org/W4403324582","authors":[],"funders":[{"funder_name":"National Institutes of Health","grant_id":"5R00AR078205-04","title":"Understanding the Role of Somatic Mutations in Adult Inflammatory Diseases"}],"total_grants":1,"fwci":3.9704,"citation_percentile":0.9482525,"influential_citations":0,"citation_trend":[{"year":2024,"count":2},{"year":2025,"count":16},{"year":2026,"count":7}],"oa_status":"closed","license":"Springer Nature TDM","oa_locations":[{"url":"https://www.nature.com/articles/s41584-024-01168-8.pdf","host_type":"publisher"},{"url":"https://www.nature.com/articles/s41584-024-01168-8","host_type":"publisher"},{"url":"https://doi.org/10.1038/s41584-024-01168-8","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/39394526","host_type":"repository"}],"fields_of_study":["Immunodeficiency and Autoimmune Disorders","Inflammasome and immune disorders","Otitis Media and Relapsing Polychondritis","0303 health sciences","03 medical and health sciences","Humans","Mutation","Autoimmune Diseases","Inflammation","Rheumatic Diseases","Hereditary Autoinflammatory Diseases","Genetic Predisposition to Disease"],"mesh_terms":["Autoimmune Diseases","Humans","Inflammation","Mutation","Rheumatic Diseases","Genetic Predisposition to Disease","Hereditary Autoinflammatory Diseases"],"keywords":["Medicine","Somatic cell","Autoimmune disease","Dermatology","Disease","Mutation","Immunology","Genetics","Pathology","Gene","Inflammation","Rheumatic Diseases","Hereditary Autoinflammatory Diseases","Humans","Genetic Predisposition to Disease","Autoimmune 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":"2026-07-28T16:12:11.712400Z","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":[]}