Abstract：
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. These diseases most often begin in the neonatal period and combine to varying degrees a more or less severe primary immune deficiency, cytopenias (especially thrombocytopenia), auto-inflammatory manifestations (especially cutaneous and digestive), atopic and auto-immune manifestations. The diagnosis is to be evoked essentially in front of a cutaneous-digestive auto-inflammation picture of early onset, associated with a primary immune deficiency and thrombocytopenia or a tendency to bleed. Some of these diseases have specificities, including a risk of macrophagic activation syndrome or a tendency to atopy or lymphoproliferation. We propose here a review of the literature on these new diseases, with a proposal for a practical approach according to the main associated biological abnormalities and some clinical particularities. 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.
摘要：
自身炎性疾病(AID)是在没有任何感染的情况下由先天免疫的不适当激活引起的疾病。单基因艾滋病的领域在不断扩大，随着pangenomic测序发现新的病理和病理生理机制。伴有自身炎症表现的肌动蛋白病是一组新出现的AIDs，与肌动蛋白细胞骨架动力学调节的缺陷有关。这些疾病通常始于新生儿期，并在不同程度上结合了或多或少严重的原发性免疫缺陷，血细胞减少症（尤其是血小板减少症），自身炎症表现（尤其是皮肤和消化），特应性和自身免疫表现。诊断基本上是在早期发作的皮肤消化自身炎症图片之前引起的，与原发性免疫缺陷和血小板减少症或出血倾向有关。其中一些疾病具有特殊性，包括巨噬细胞活化综合征的风险或有特应性或淋巴增生的倾向。我们在这里建议对这些新疾病的文献进行回顾，根据主要相关的生物学异常和一些临床特殊性，提出了一种实用的方法。然而,诊断仍然是遗传的，必须考虑几种鉴别诊断。这些疾病的病理生理学尚未完全阐明，需要进行研究以更好地阐明可以指导治疗选择的内在机制。在大多数情况下,图片的严重程度表明异基因骨髓移植。
