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article · The Journal of Gene Medicine

miRNAs in Erdheim‐Chester Disease: A Paradigm of Multisystem Histiocytosis

Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis identified in the early 20th century. ECD primarily affects adults and is characterized by systemic infiltration of foamy macrophages. ECD can infiltrate the bones, skin, heart, and central nervous system, causing various symptoms. Limited targeted treatments, immunotherapy, and chemotherapy options underscore the need for tailored approaches to this complex disorder. Recent studies have highlighted the role of microRNAs (miRNAs) as critical regulators of gene expression involved in various pathophysiological processes, including inflammation and immune responses. Likewise, ECD patients exhibited abnormal expression of miRNAs that can disrupt immunological checkpoints and histiocyte activity, leading to ECD histiocyte proliferation and survival. This review addresses the emerging evidence regarding the involvement of miRNAs in ECD, focusing on their potential as biomarkers for diagnosis and prognosis and their role in modulating the disease's inflammatory pathways. Understanding the specific miRNA profiles in ECD could provide insights into disease mechanisms and pave the way for targeted therapeutic strategies. Future research should elucidate the precise functions of miRNAs in ECD and their potential clinical applications.

Research topics

  • Histiocytic Disorders and Treatments
  • Tuberous Sclerosis Complex Research
  • Genetic and rare skin diseases.

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DOI: 10.1002/jgm.70062

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