{"doi":"10.1016/j.autrev.2026.103993","title":"Sarcoidosis: Disease mechanisms, diagnostic pathway and treatment","abstract":null,"journal":"Autoimmunity Reviews","year":2026,"id":645409,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"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":1225621,"name":"Hilario Nunes","orcid":null,"position":1,"is_corresponding":false},{"id":1680547,"name":"Virgil A.S.H. Dalm","orcid":null,"position":2,"is_corresponding":false},{"id":109564,"name":"Marc A. Judson","orcid":"0000-0002-4663-7985","position":3,"is_corresponding":false},{"id":245349,"name":"Paolo Spagnolo","orcid":"0000-0002-1096-0596","position":4,"is_corresponding":false},{"id":1225665,"name":"Jelle Miedema","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Sarcoidosis: Disease mechanisms, diagnostic pathway and treatment","abstract":"Sarcoidosis is an inflammatory granulomatous disease that affects people worldwide and can involve virtually any organ but most commonly the lungs and thoracic lymph nodes. The cause of sarcoidosis remains unknown, but occupational and environmental exposures, genetic background, and ethnicity are likely contributors to disease development. Recent immunological studies, including single-cell RNA sequencing and spatial transcriptomics, have increased our understanding of disease pathogenesis. Diagnosing sarcoidosis is often challenging due to the lack of a diagnostic gold standard and the remarkable variability in clinical presentation. Accordingly, the diagnosis requires the presence of compatible clinical and radiological features along with histopathological evidence of noncaseating granulomas and exclusion of other granulomatous diseases. The differential diagnosis includes infection, drug-induced granulomatosis, inborn error of immunity, vasculitis and malignancies. Sarcoidosis often resolves spontaneously, but it is not a benign disease. Up to one-third of patients develops chronic or progressive disease, which carries an increased risk of organ failure or death. Treatment is not always required, but is clearly indicated for progressive pulmonary disease, symptomatic cardiac or central nervous system involvement, and significantly impaired quality of life. Treatment aims to decrease symptom burden and preserve organ function. Corticosteroids have been considered first-line treatment for decades, but their long-term use is associated with substantial toxicity. Recently, methotrexate was found to be equally effective as prednisone as first-line treatment in pulmonary sarcoidosis. The identification of novel pathways involved in disease pathogenesis has suggested JAK inhibitors and mTOR inhibitors as potential therapies. More efficacious and better tolerated therapies are urgently needed; however, the rarity of the disease, its heterogeneous clinical course and the lack of prognostic biomarkers make it difficult to design and implement clinical trials of novel therapies. Created in BioRender. Longziekten, P. (2025) https://BioRender.com/y2cg99z • Sarcoidosis is a systemic granulomatous disorder of unknown cause/s that results from a complex interplay between infectious/environmental triggers and genetic factors leading to an aberrant immune response. Autoimmunity is also likely to contribute to disease pathogenesis. • There is no diagnostic gold standard and the diagnosis is most likely in the presence of compatible clinical and radiological features coupled with histopathological evidence of non-caseating granulomas at disease sites and after exclusion of other granulomatous diseases. • Sarcoidosis is not a benign disease, although it resolves with or without treatment in the majority of cases. Indeed, about one-third of the patients develop chronic disease and organ failure, which represent the main causes of morbidity and mortality. • Corticosteroids are the mainstay of treatment but they do not cure the disease and are associated with significant side effects. • Patients with refractory or life/organ-threatening disease should be referred to expert centres.","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"41651390","pmcid":null,"openalex_id":"https://openalex.org/W7127569962","authors":[],"funders":[],"total_grants":0,"fwci":14.0359,"citation_percentile":0.98064046,"influential_citations":0,"citation_trend":[{"year":2026,"count":2}],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.1016/j.autrev.2026.103993","host_type":"journal"},{"url":"https://doi.org/10.1016/j.autrev.2026.103993","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1568997226000078?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1568997226000078?httpAccept=text/plain","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/41651390","host_type":"repository"},{"url":"https://pure.eur.nl/en/publications/b26535de-2a22-4dae-b8c4-05966ee6a117","host_type":"repository"},{"url":"https://pure.eur.nl/ws/files/228716836/1-s2.0-S1568997226000078-main.pdf","host_type":"repository"}],"fields_of_study":["Sarcoidosis and Beryllium Toxicity Research","Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","Histiocytic Disorders and Treatments","Humans","Sarcoidosis","Diagnosis, Differential","Adrenal Cortex Hormones","Animals"],"mesh_terms":["Adrenal Cortex Hormones","Animals","Diagnosis, Differential","Humans","Sarcoidosis"],"keywords":["Sarcoidosis","Disease","Neurosarcoidosis","Genetic predisposition","Differential diagnosis","Prednisone","Vasculitis","Methotrexate","Pathogenesis","Treatment","Autoimmunity","Common Variable Immune Deficiency"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-09T05:23:19.495164Z","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":[]}