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1:CAS:528:DC%2BC38XhsVyru7jF 22879539 10.1182/blood-2012-05-430140 An important study of a large number of histiocytic disorders with half of ECD and LCH patients tested mutated for BRAF V600E; no mutations found in all the other non-Langerhans histiocytosis tested (for example Rosai-Dorfman disease)
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Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. An important study of a large number of histiocytic disorders with half of ECD and LCH patients tested mutated for BRAF V600E; no mutations found in all the other non-Langerhans histiocytosis tested (for example Rosai-Dorfman disease).
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1:CAS:528:DC%2BC3sXhtlWltb7E 23929840 10.1182/blood-2013-02-482984 An interesting study with detection of an NRAS mutation in an ECD case, focusing on the importance of the RAS-RAF-MEK-ERK pathway in this condition
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Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. This important cytokine analysis from serum samples of 37 ECD patients reveals an intense systemic immune activation mainly involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, emphasising the systemic immune Th-1-oriented perturbation associated with this condition.
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