{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:46:25Z","timestamp":1790721985925,"version":"4.1.0"},"reference-count":114,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100020703","name":"Department of Pharmaceutical Sciences, St. John's University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020703","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023983","name":"Babasaheb Bhimrao Ambedkar University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023983","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Disease-a-Month"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.disamonth.2024.101845","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T12:32:29Z","timestamp":1735993949000},"page":"101845","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Erdheim\u2013Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances"],"prefix":"10.1016","volume":"71","author":[{"given":"Rishabh","family":"Chaudhary","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alpana","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vipul","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mujeeba","family":"Rehman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjun Singh","family":"Kaushik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddhi","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukriti","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Mishra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0084","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/s41572-021-00307-9","article-title":"Histiocytic disorders","volume":"7","author":"McClain","year":"2021","journal-title":"Nat Rev Dis Primers"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0029","doi-asserted-by":"crossref","first-page":"2840","DOI":"10.1182\/blood.V84.9.2840.2840","article-title":"Histiocytes and histiocytosis","volume":"84","author":"Cline","year":"1994","journal-title":"Blood"},{"issue":"16","key":"10.1016\/j.disamonth.2024.101845_bib0096","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1182\/blood.2019000934","article-title":"Langerhans cell histiocytosis","volume":"135","author":"Rodriguez-Galindo","year":"2020","journal-title":"Blood"},{"issue":"16","key":"10.1016\/j.disamonth.2024.101845_bib0068","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1182\/blood.2019002766","article-title":"Erdheim-chester disease","volume":"135","author":"Haroche","year":"2020","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0093","doi-asserted-by":"crossref","first-page":"2840","DOI":"10.1038\/s41375-020-0944-4","article-title":"Erdheim\u2013Chester disease: a rapidly evolving disease model","volume":"34","author":"Pegoraro","year":"2020","journal-title":"Leukemia"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0101","doi-asserted-by":"crossref","DOI":"10.1016\/j.berh.2020.101510","article-title":"Erdheim\u2013Chester disease","volume":"34","author":"Starkebaum","year":"2020","journal-title":"Best Pract Res: Clin Rheumatol"},{"issue":"20","key":"10.1016\/j.disamonth.2024.101845_bib0104","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1182\/blood-2016-01-643569","article-title":"The 2016 revision of the World Health Organization classification of lymphoid neoplasms","volume":"127","author":"Swerdlow","year":"2016","journal-title":"Blood"},{"issue":"22","key":"10.1016\/j.disamonth.2024.101845_bib0057","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1182\/blood.2019003507","article-title":"Erdheim-Chester disease: Consensus recommendations for evaluation, diagnosis, and treatment in the molecular era","volume":"135","author":"Goyal","year":"2020","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0072","first-page":"2777","article-title":"Erdheim-Chester disease: comprehensive review of molecular profiling and therapeutic advances","volume":"37","author":"Haroun","year":"2017","journal-title":"Anticancer Res"},{"issue":"7749","key":"10.1016\/j.disamonth.2024.101845_bib0043","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/s41586-019-1012-y","article-title":"Efficacy of MEK inhibition in patients with histiocytic neoplasms","volume":"567","author":"Diamond","year":"2019","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0028","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/mpo.10402","article-title":"Erdheim-Chester disease in a child","volume":"41","author":"Clerico","year":"2003","journal-title":"Med Pediatr Oncol"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0106","doi-asserted-by":"crossref","first-page":"4031","DOI":"10.1002\/art.30638","article-title":"Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs","volume":"63","author":"Tran","year":"2011","journal-title":"Arthritis Rheum"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0107","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1097\/MPH.0b013e3181b76827","article-title":"Erdheim-chester disease in childhood: A challenging diagnosis and treatment","volume":"31","author":"Tran","year":"2009","journal-title":"J Pediatr Hematol Oncol"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0110","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00005792-199605000-00005","article-title":"Erdheim-Chester disease: Clinical and radiologic characteristics of 59 cases","volume":"75","author":"Veyssier-Belot","year":"1996","journal-title":"Medicine (Baltimore)"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0111","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1111\/j.1600-0560.2010.01650.x","article-title":"Erdheim-Chester disease presenting with cutaneous involvement: A case report and literature review","volume":"38","author":"Volpicelli","year":"2011","journal-title":"J Cutan Pathol"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0095","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1186\/s40478-019-0811-6","article-title":"BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): A revised diagnostic algorithm to include pediatric Erdheim-Chester disease","volume":"7","author":"Picarsic","year":"2019","journal-title":"Acta Neuropathol Commun"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0002","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.5858\/2004-128-1428-PAOIWE","article-title":"Pulmonary and ophthalmic involvement with Erdheim\u2013Chester disease: A case report and review of the literature","volume":"128","author":"Allen","year":"2004","journal-title":"Arch Pathol Lab Med."},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0045","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1148\/radiol.10090320","article-title":"Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings","volume":"255","author":"Drier","year":"2010","journal-title":"Radiology"},{"key":"10.1016\/j.disamonth.2024.101845_bib0023","doi-asserted-by":"crossref","unstructured":"Bruneau, J., & Molina, T. J. (2020). WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues (T. J. Molina (Ed.); pp. 501\u2013505). Springer International Publishing. https:\/\/doi.org\/10.1007\/978-3-319-95309-0_3817","DOI":"10.1007\/978-3-319-95309-0_3817"},{"issue":"22","key":"10.1016\/j.disamonth.2024.101845_bib0047","doi-asserted-by":"crossref","first-page":"2672","DOI":"10.1182\/blood-2016-01-690636","article-title":"Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages","volume":"127","author":"Emile","year":"2016","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0103","doi-asserted-by":"crossref","first-page":"4018","DOI":"10.1002\/art.22280","article-title":"Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim-Chester disease: Implications for pathogenesis","volume":"54","author":"Stoppacciaro","year":"2006","journal-title":"Arthritis Rheum"},{"issue":"13","key":"10.1016\/j.disamonth.2024.101845_bib0066","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1182\/blood-2012-05-430140","article-title":"High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses","volume":"120","author":"Haroche","year":"2012","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0071","doi-asserted-by":"crossref","first-page":"e113","DOI":"10.1016\/S1470-2045(17)30031-1","article-title":"Histiocytoses: emerging neoplasia behind inflammation","volume":"18","author":"Haroche","year":"2017","journal-title":"Lancet Oncol"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0041","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1182\/blood-2014-03-561381","article-title":"Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease","volume":"124","author":"Diamond","year":"2014","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0010","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1182\/blood-2010-04-279083","article-title":"Recurrent BRAF mutations in Langerhans cell histiocytosis","volume":"116","author":"Badalian-Very","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.disamonth.2024.101845_bib0012","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2022.876294","article-title":"Genetics and clinical phenotype of Erdheim\u2013Chester disease: A case report of constrictive pericarditis and a systematic review of the literature","volume":"9","author":"Bartoli","year":"2022","journal-title":"Front Cardiovasc Med"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0075","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.sjbs.2014.10.002","article-title":"BRAF gene: from human cancers to developmental syndromes","volume":"22","author":"Hussain","year":"2015","journal-title":"Saudi J Biol Sci"},{"issue":"19","key":"10.1016\/j.disamonth.2024.101845_bib0048","doi-asserted-by":"crossref","first-page":"3016","DOI":"10.1182\/blood-2014-04-570937","article-title":"Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease","volume":"124","author":"Emile","year":"2014","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0042","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1158\/2159-8290.CD-15-0913","article-title":"Diverse and targetable kinase alterations drive histiocytic neoplasms","volume":"6","author":"Diamond","year":"2016","journal-title":"Cancer Discov"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0046","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1038\/s41591-019-0653-6","article-title":"Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms","volume":"25","author":"Durham","year":"2019","journal-title":"Nat Med"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0055","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1182\/blood-2015-01-620377","article-title":"Sirolimus plus prednisone for Erdheim-Chester disease: An open-label trial","volume":"126","author":"Gianfreda","year":"2015","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0091","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s11926-019-0865-2","article-title":"Erdheim-Chester disease: a concise review","volume":"21","author":"Papo","year":"2019","journal-title":"Curr Rheumatol Rep"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0011","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/s41392-023-01705-z","article-title":"Targeting the RAS\/RAF\/MAPK pathway for cancer therapy: from mechanism to clinical studies","volume":"8","author":"Bahar","year":"2023","journal-title":"Signal Transduct Target Ther"},{"issue":"24","key":"10.1016\/j.disamonth.2024.101845_bib0038","doi-asserted-by":"crossref","first-page":"3183","DOI":"10.1038\/s41388-018-0171-x","article-title":"Classifying BRAF alterations in cancer: New rational therapeutic strategies for actionable mutations","volume":"37","author":"Dankner","year":"2018","journal-title":"Oncogene"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0090","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/modpathol.2017.160","article-title":"The histopathology of Erdheim-Chester disease: A comprehensive review of a molecularly characterized cohort","volume":"31","author":"Ozkaya","year":"2018","journal-title":"Modern Pathol"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0004","doi-asserted-by":"crossref","first-page":"2783","DOI":"10.1182\/blood-2010-10-313510","article-title":"Systemic perturbation of cytokine and chemokine networks in Erdheim\u2013Chester disease: A single-center series of 37 patients","volume":"117","author":"Arnaud","year":"2011","journal-title":"Blood"},{"issue":"43","key":"10.1016\/j.disamonth.2024.101845_bib0088","first-page":"e1365","article-title":"Cardiovascular involvement in Erdheim-Chester disease: A case report and review of the literature","volume":"94","author":"Nicolazzi","year":"2015","journal-title":"Medicine (United States)"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0049","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1182\/bloodadvances.2016001784","article-title":"The clinical spectrum of Erdheim-Chester disease: An observational cohort study","volume":"1","author":"Estrada-Veras","year":"2017","journal-title":"Blood Adv"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0092","first-page":"15","article-title":"Neuroradiologic manifestations of Erdheim-Chester disease","volume":"8","author":"Parks","year":"2018","journal-title":"Neurol: Clin Pract"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0061","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1016\/j.mayocp.2019.02.023","article-title":"The mayo clinic histiocytosis working group consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: erdheim-chester disease, langerhans cell histiocytosis, and rosai-dorfman disease","volume":"94","author":"Goyal","year":"2019","journal-title":"Mayo Clin Proc"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0001","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1586\/1744666X.2014.958469","article-title":"Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients","volume":"10","author":"Aghamohammadi","year":"2014","journal-title":"Expert Rev Clin Immunol"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0025","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.ejim.2015.03.004","article-title":"Erdheim-Chester disease","volume":"26","author":"Campochiaro","year":"2015","journal-title":"Eur J Intern Med"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0082","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1007\/s00415-006-0160-9","article-title":"Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: Report of 6 cases and systematic review of the literature","volume":"253","author":"Lachenal","year":"2006","journal-title":"J Neurol"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0026","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1136\/annrheumdis-2012-202542","article-title":"The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: Comprehensive review of the literature and of 10 new cases","volume":"72","author":"Cavalli","year":"2013","journal-title":"Ann Rheum Dis"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0085","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1080\/01676830.2016.1176211","article-title":"Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review","volume":"35","author":"Merritt","year":"2016","journal-title":"Orbit"},{"issue":"5","key":"10.1016\/j.disamonth.2024.101845_bib0030","doi-asserted-by":"crossref","first-page":"E114","DOI":"10.1002\/ajh.25055","article-title":"Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort","volume":"93","author":"Cohen-Aubart","year":"2018","journal-title":"Am J Hematol"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0027","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.jaad.2015.11.007","article-title":"Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients","volume":"74","author":"Chasset","year":"2016","journal-title":"J Am Acad Dermatol"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0013","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1111\/ijd.13637","article-title":"The clinical spectrum of xanthomatous lesions of the eyelids","volume":"56","author":"Baykal","year":"2017","journal-title":"Int J Dermatol"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0040","doi-asserted-by":"crossref","first-page":"e187","DOI":"10.1111\/j.1365-2230.2009.03643.x","article-title":"Papulonodular lesions, gynaecomastia and retroperitoneal fibrosis: CPD \u2022 Clinicopathological case","volume":"35","author":"Di Lernia","year":"2010","journal-title":"Clin Exp Dermatol"},{"issue":"7","key":"10.1016\/j.disamonth.2024.101845_bib0113","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1001\/archderm.143.7.952","article-title":"Verruca plana-like papules as a new manifestation of Erdheim-Chester disease [8]","volume":"143","author":"Yanagi","year":"2007","journal-title":"Arch Dermatol"},{"issue":"25","key":"10.1016\/j.disamonth.2024.101845_bib0067","doi-asserted-by":"crossref","first-page":"e597","DOI":"10.1161\/CIRCULATIONAHA.108.825075","article-title":"Cardiac involvement in erdheim-chester disease: Magnetic resonance and computed tomographic scan imaging in a monocentric series of 37 patients","volume":"119","author":"Haroche","year":"2009","journal-title":"Circulation"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0100","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1136\/jcp.2004.018481","article-title":"Erdheim-Chester disease: case report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature","volume":"57","author":"Sheu","year":"2004","journal-title":"J Clin Pathol"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0099","first-page":"1550","article-title":"Coated aorta\u201d: A new sign of Erdheim-Chester disease","volume":"27","author":"Serratrice","year":"2000","journal-title":"J Rheumatol"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0080","doi-asserted-by":"crossref","first-page":"345","DOI":"10.4046\/trd.2009.67.4.345","article-title":"Erdheim-chester disease with hepatitis, glomerulonephritis, aplastic anemia and lung involvement","volume":"67","author":"Ji","year":"2009","journal-title":"Tuberc Respir Dis (Seoul)"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0022","doi-asserted-by":"crossref","first-page":"2579","DOI":"10.1007\/s00330-010-1830-7","article-title":"Erdheim-Chester disease: CT findings of thoracic involvement","volume":"20","author":"Brun","year":"2010","journal-title":"Eur Radiol"},{"issue":"5","key":"10.1016\/j.disamonth.2024.101845_bib0112","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.2214\/ajr.174.5.1741327","article-title":"Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings","volume":"174","author":"Wittenberg","year":"2000","journal-title":"Am J Roentgenol"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0007","doi-asserted-by":"crossref","first-page":"3504","DOI":"10.1002\/art.27672","article-title":"Pulmonary involvement in Erdheim-Chester disease: A single-center study of thirty-four patients and a review of the literature","volume":"62","author":"Arnaud","year":"2010","journal-title":"Arthritis Rheum"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0035","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1210\/jc.2015-3357","article-title":"Endocrine manifestations in a monocentric cohort of 64 patients with erdheim-chester disease","volume":"101","author":"Courtillot","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0115","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.urology.2013.10.023","article-title":"Urologic manifestations of erdheim-chester disease","volume":"84","author":"Yelfimov","year":"2014","journal-title":"Urology"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0065","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/01.md.0000145368.17934.91","article-title":"Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: Report of 6 new cases and a literature review","volume":"83","author":"Haroche","year":"2004","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0094","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/S0022-5347(17)36011-1","article-title":"Successful management of bilateral xanthogranulomatous pyelonephritis by bilateral partial nephrectomy","volume":"149","author":"Perez","year":"1993","journal-title":"J Urol"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0006","doi-asserted-by":"crossref","first-page":"3128","DOI":"10.1002\/art.24848","article-title":"18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease","volume":"60","author":"Arnaud","year":"2009","journal-title":"Arthritis Rheum"},{"issue":"8","key":"10.1016\/j.disamonth.2024.101845_bib0052","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1016\/j.ejrad.2015.04.022","article-title":"The role of 18FDG, 18FDOPA PET\/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease","volume":"84","author":"Garc\u00eda-G\u00f3mez","year":"2015","journal-title":"Eur J Radiol"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0062","article-title":"Diagnosis and management of Erdheim-Chester disease, a MAPK-ERK pathway-driven histiocytic Neoplasm","volume":"17","author":"Goyal","year":"2020","journal-title":"Hematologist"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0016","doi-asserted-by":"crossref","first-page":"844","DOI":"10.7326\/0003-4819-135-9-200111060-00027","article-title":"Treatment of refractory Erdheim-Chester disease with double autologous hematopoietic stem-cell transplantation [8]","volume":"135","author":"Boissel","year":"2001","journal-title":"Ann Intern Med"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0086","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1136\/bjo.2003.035584","article-title":"Treatment of Erdheim-Chester disease with cladribine: A rational approach [14]","volume":"88","author":"Myra","year":"2004","journal-title":"Br J Ophthalmology"},{"issue":"8","key":"10.1016\/j.disamonth.2024.101845_bib0053","first-page":"1121","article-title":"High-dose chemotherapy followed by autologous hematopoietic stem cell transplantation for adult histiocytic disorders with central nervous system involvement","volume":"91","author":"Gaspar","year":"2006","journal-title":"Haematologica"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0054","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.pharmthera.2012.03.006","article-title":"Pharmacology and therapeutic potential of interferons","volume":"135","author":"George","year":"2012","journal-title":"Pharmacol Therap"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0019","doi-asserted-by":"crossref","first-page":"2992","DOI":"10.1182\/blood-2005-06-2238","article-title":"Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-\u03b1","volume":"106","author":"Braiteh","year":"2005","journal-title":"Blood"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0073","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.semarthrit.2011.11.004","article-title":"Treatment of Erdheim-Chester disease with long-term high-dose interferon-\u03b1","volume":"41","author":"Hervier","year":"2012","journal-title":"Semin Arthritis Rheum"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0078","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1007\/s00296-020-04627-z","article-title":"Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim\u2013Chester disease: case-based review","volume":"40","author":"Iaremenko","year":"2020","journal-title":"Rheumatol Int"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0083","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.4143\/crt.2022.1535","article-title":"Case report of Erdheim-Chester disease successfully treated with pegylated interferon: a single-center experience","volume":"55","author":"Lim","year":"2023","journal-title":"Cancer Res Treat"},{"issue":"8","key":"10.1016\/j.disamonth.2024.101845_bib0077","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1056\/NEJMoa1502309","article-title":"Vemurafenib in multiple nonmelanoma cancers with BRAF v600 mutations","volume":"373","author":"Hyman","year":"2015","journal-title":"New Engl J Med"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0033","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1182\/blood-2017-03-771873","article-title":"Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study)","volume":"130","author":"Cohen Aubart","year":"2017","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0044","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1001\/jamaoncol.2017.5029","article-title":"Vemurafenib for BRAF V600-mutant erdheim-chester disease and langerhans cell histiocytosis analysis of data from the histology-independent, phase 2, open-label VE-BASKET study","volume":"4","author":"Diamond","year":"2018","journal-title":"JAMA Oncol"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0050","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/nrd3579","article-title":"Vemurafenib","volume":"10","author":"Flaherty","year":"2011","journal-title":"Nat Rev Drug Disc"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0069","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1182\/blood-2012-07-446286","article-title":"Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation","volume":"121","author":"Haroche","year":"2013","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.disamonth.2024.101845_bib0070","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1200\/JCO.2014.57.1950","article-title":"Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAFV600E-mutated erdheim-chester disease","volume":"33","author":"Haroche","year":"2015","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.disamonth.2024.101845_bib0102","first-page":"55","article-title":"Erdheim-Chester disease, moving away from the orphan diseases: A case report","volume":"20","author":"Stempel","year":"2017","journal-title":"Respirat Med Case Rep"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0063","doi-asserted-by":"crossref","first-page":"e138","DOI":"10.1097\/IOP.0000000000000866","article-title":"Vemurafenib (BRAF Inhibitor) therapy for orbital Erdheim-Chester disease","volume":"33","author":"Gupta","year":"2017","journal-title":"Ophthalmic Plast Reconstr Surg"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0015","doi-asserted-by":"crossref","first-page":"e177","DOI":"10.3324\/haematol.2017.185298","article-title":"Single-agent dabrafenib for BRAFV600E-mutated histiocytosis","volume":"103","author":"Bhatia","year":"2018","journal-title":"Haematologica"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0018","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1093\/annonc\/mdt015","article-title":"Prospective study of cutaneous side-effects associated with the BRAF inhibitor vemurafenib: A study of 42 patients","volume":"24","author":"Boussemart","year":"2013","journal-title":"Annals Oncol"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0098","article-title":"Erdheim-Chester disease successfully treated with front-line single-agent dabrafenib","volume":"23","author":"Salama","year":"2022","journal-title":"Am J Case Rep"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0034","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/bjh.14284","article-title":"Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease","volume":"180","author":"Cohen Aubart","year":"2018","journal-title":"Br J Haematol"},{"issue":"7","key":"10.1016\/j.disamonth.2024.101845_bib0089","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1182\/blood-2016-09-740217","article-title":"Trametinib after disease reactivation under dabrafenib in Erdheim-Chester disease with both BRAF and KRAS mutations","volume":"129","author":"Nordmann","year":"2017","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0097","doi-asserted-by":"crossref","first-page":"E502","DOI":"10.3324\/haematol.2018.214007","article-title":"Autoimmunity associated with Erdheim-Chester disease improves with BRAF\/MEK inhibitors","volume":"104","author":"Roeser","year":"2019","journal-title":"Haematologica"},{"issue":"20","key":"10.1016\/j.disamonth.2024.101845_bib0003","doi-asserted-by":"crossref","first-page":"4070","DOI":"10.1182\/blood-2010-04-279240","article-title":"Rationale and efficacy of interleukin-1 targeting in Erdheim\u2013Chester disease","volume":"116","author":"Aouba","year":"2010","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0008","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jbspin.2012.07.005","article-title":"Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra","volume":"80","author":"Aubert","year":"2013","journal-title":"Joint Bone Spine"},{"issue":"5","key":"10.1016\/j.disamonth.2024.101845_bib0081","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1016\/j.ijcard.2013.04.057","article-title":"Erdheim-Chester disease with cardiac involvement successfully treated with anakinra","volume":"167","author":"Killu","year":"2013","journal-title":"Int J Cardiol"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0060","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1111\/bjh.14997","article-title":"Efficacy of biological agents in the treatment of Erdheim-Chester disease","volume":"183","author":"Goyal","year":"2018","journal-title":"Br J Haematol"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0032","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1182\/blood-2015-09-672667","article-title":"To the editor: Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease","volume":"127","author":"Cohen-Aubart","year":"2016","journal-title":"Blood"},{"issue":"8","key":"10.1016\/j.disamonth.2024.101845_bib0051","article-title":"Superior efficacy and similar safety of double dose anakinra in Erdheim-Chester disease after single dose treatment","volume":"7","author":"Franconieri","year":"2018","journal-title":"Oncoimmunology"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0024","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1136\/annrheumdis-2019-216610","article-title":"Efficacy and improved tolerability of combination therapy with interleukin-1 blockade and MAPK pathway inhibitors for the treatment of Erdheim-Chester disease","volume":"81","author":"Campochiaro","year":"2022","journal-title":"Ann Rheum Dis"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0014","doi-asserted-by":"crossref","DOI":"10.1080\/2162402X.2017.1318237","article-title":"Tocilizumab in patients with multisystem Erdheim\u2013Chester disease","volume":"6","author":"Berti","year":"2017","journal-title":"Oncoimmunology"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0031","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1136\/annrheumdis-2017-212678","article-title":"Efficacy of infliximab in the treatment of Erdheim-Chester disease","volume":"77","author":"Cohen-Aubart","year":"2018","journal-title":"Ann Rheum Dis"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0108","doi-asserted-by":"crossref","first-page":"2312","DOI":"10.1093\/rheumatology\/keu344","article-title":"Treatment of Erdheim\u2013Chester disease with canakinumab","volume":"53","author":"Tran","year":"2014","journal-title":"Rheumatology (United Kingdom)"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0079","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s10067-003-0801-7","article-title":"Improvement of Erdheim-Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil","volume":"23","author":"Jendro","year":"2004","journal-title":"Clin Rheumatol"},{"issue":"7","key":"10.1016\/j.disamonth.2024.101845_bib0020","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1007\/s00296-011-1998-4","article-title":"Bilateral orbital Erdheim-Chester disease treated with 12 weekly administrations of VNCOP-B chemotherapy: A case report and a review of literature","volume":"32","author":"Broccoli","year":"2012","journal-title":"Rheumatol Int"},{"key":"10.1016\/j.disamonth.2024.101845_bib0074","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2014\/269359","article-title":"High-dose methotrexate for the treatment of relapsed central nervous system Erdheim-Chester disease","volume":"2014","author":"Ho","year":"2014","journal-title":"Case Rep Hematol"},{"issue":"12","key":"10.1016\/j.disamonth.2024.101845_bib0058","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/s41408-017-0034-7","article-title":"Clinical and radiological responses to oral methotrexate alone or in combination with other agents in erdheim-chester disease","volume":"7","author":"Goyal","year":"2017","journal-title":"Blood Cancer J"},{"issue":"8","key":"10.1016\/j.disamonth.2024.101845_bib0039","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1007\/s40263-018-0562-0","article-title":"Cladribine tablets: a review in relapsing MS","volume":"32","author":"Deeks","year":"2018","journal-title":"CNS Drugs"},{"issue":"9","key":"10.1016\/j.disamonth.2024.101845_bib0059","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1001\/jamaoncol.2017.0041","article-title":"Clinical and radiologic responses to cladribine for the treatment of Erdheim-Chester disease","volume":"3","author":"Goyal","year":"2017","journal-title":"JAMA Oncol"},{"key":"10.1016\/j.disamonth.2024.101845_bib0009","first-page":"37","article-title":"Erdheim chester disease treated successfully with cladribine","volume":"18","author":"Azadeh","year":"2016","journal-title":"Respir Med Case Rep"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0105","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3960\/jslrt.18015","article-title":"Cladribine treatment for Erdheim\u2013Chester disease involving the central nervous system and concomitant polycythemia vera: A case report","volume":"58","author":"Tamura","year":"2018","journal-title":"J Clin Exp Hematopathol"},{"issue":"11","key":"10.1016\/j.disamonth.2024.101845_bib0017","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1136\/thorax.58.11.1004","article-title":"Erdheim-Chester disease: Pulmonary infiltration responding to cyclophosphamide and prednisolone","volume":"58","author":"Bourke","year":"2003","journal-title":"Thorax"},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0087","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.rmedc.2010.08.002","article-title":"Pulmonary Erdheim-Chester disease: A response to predonisolone","volume":"4","author":"Nagahama","year":"2011","journal-title":"Respir Med CME"},{"issue":"1","key":"10.1016\/j.disamonth.2024.101845_bib0114","first-page":"43","article-title":"A case of Erdheim-Chester disease effectively treated by cyclophosphamide and prednisolone","volume":"45","author":"Yano","year":"2007","journal-title":"Nihon Koky\u016bki Gakkai zasshi = J Jpn Respirat Soc"},{"issue":"2","key":"10.1016\/j.disamonth.2024.101845_bib0036","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1093\/rheumatology\/keaa430","article-title":"Coated aorta in Erdheim-Chester disease","volume":"60","author":"Cui","year":"2021","journal-title":"Rheumatology (United Kingdom)"},{"issue":"6","key":"10.1016\/j.disamonth.2024.101845_bib0109","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1080\/0284186X.2019.1589648","article-title":"Sirolimus monotherapy for Erdheim\u2013Chester disease","volume":"58","author":"van Bommel","year":"2019","journal-title":"Acta Oncol (Madr)"},{"issue":"4","key":"10.1016\/j.disamonth.2024.101845_bib0037","first-page":"347","article-title":"Sirolimus successfully treated Erdheim-Chester disease with interferon and cytarabine treatment failure: a case report","volume":"44","author":"Dai","year":"2023","journal-title":"Zhonghua Xue Ye Xue Za Zhi= Zhonghua Xueyexue Zazhi"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0064","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1182\/blood-2015-07-650796","article-title":"mTOR: A new target in Erdheim-Chester disease?","volume":"126","author":"Haroche","year":"2015","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.disamonth.2024.101845_bib0056","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1038\/sj.eye.6702383","article-title":"Orbital inflammatory disease: A diagnostic and therapeutic challenge","volume":"20","author":"Gordon","year":"2006","journal-title":"Eye"},{"issue":"3","key":"10.1016\/j.disamonth.2024.101845_bib0076","doi-asserted-by":"crossref","first-page":"159","DOI":"10.7123\/01.EJIM.0000433902.50829.68","article-title":"Everolimus in Erdheim\u2013Chester disease","volume":"25","author":"Hussein","year":"2013","journal-title":"Egypt J Intern Med"},{"key":"10.1016\/j.disamonth.2024.101845_bib0021","article-title":"Erdheim-Chester disease: two cases from an ophthalmic perspective","volume":"20","author":"Brodie","year":"2020","journal-title":"Am J Ophthalmol Case Rep"}],"container-title":["Disease-a-Month"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0011502924001718?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0011502924001718?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T20:40:07Z","timestamp":1740343207000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0011502924001718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":114,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["S0011502924001718"],"URL":"https:\/\/doi.org\/10.1016\/j.disamonth.2024.101845","relation":{},"ISSN":["0011-5029"],"issn-type":[{"value":"0011-5029","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Erdheim\u2013Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances","name":"articletitle","label":"Article Title"},{"value":"Disease-a-Month","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.disamonth.2024.101845","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"101845"}}