La Revue de médecine interne
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Review
[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].
Auto-inflammatory diseases (AIDs) are diseases resulting from an inappropriate activation of innate immunity in the absence of any infection. The field of monogenic AIDs is constantly expanding, with the discovery of new pathologies and pathophysiological mechanisms thanks to pangenomic sequencing. Actinopathies with auto-inflammatory manifestations are a new emerging group of AIDs, linked to defects in the regulation of the actin cytoskeleton dynamics. ⋯ However, the diagnosis remains genetic, and several differential diagnoses must be considered. The pathophysiology of these diseases is not yet fully elucidated, and studies are needed to better clarify the inherent mechanisms that can guide the choice of therapies. In most cases, the severity of the picture indicates allogeneic marrow transplantation.
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Sickle Cell Anemia is a disease with a strong vascular tropism. Beyond anemia, the pathophysiological mechanisms responsible for hemolysis, directly affect both acute and chronic vascular damages, thus resulting in a systemic disease. Understanding the different types of hemolysis underline the need for novel specific biomarkers. ⋯ It seems likely that the rapidly evolving knowledge in this field will also benefit other diseases. © 2023 Société nationale française de médecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.