Mertz P, Hentgen V, Boursier G, Delon J, Georgin-Lavialle S
Service de rhumatologie, hôpitaux universitaires de Strasbourg, centre national de référence RESO, 67000 Strasbourg, France.
Service de pédiatrie, centre hospitalier de Versailles, centre de référence des maladies auto-inflammatoires et de l'amylose (CEREMAIA), 78150 Le Chesnay, France.
Rev Med Interne. 2023 Nov;44(11):585-593. doi: 10.1016/j.revmed.2023.06.005. Epub 2023 Aug 16.
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.
自身炎症性疾病（AIDs）是指在无任何感染情况下，先天性免疫不适当激活所导致的疾病。由于泛基因组测序，单基因AIDs领域不断扩展，新的病理学和病理生理机制不断被发现。具有自身炎症表现的肌动蛋白病是一类新兴的AIDs，与肌动蛋白细胞骨架动力学调节缺陷有关。这些疾病大多始于新生儿期，不同程度地合并有或多或少严重的原发性免疫缺陷、血细胞减少（尤其是血小板减少）、自身炎症表现（尤其是皮肤和消化系统表现）、特应性和自身免疫表现。诊断主要应在出现早发性皮肤-消化系统自身炎症表现，伴有原发性免疫缺陷和血小板减少或出血倾向时考虑。其中一些疾病具有特异性，包括巨噬细胞活化综合征风险或特应性或淋巴增殖倾向。我们在此对这些新疾病的文献进行综述，并根据主要相关生物学异常和一些临床特点提出一种实用的方法建议。然而，诊断仍需依靠遗传学，必须考虑多种鉴别诊断。这些疾病的病理生理学尚未完全阐明，需要开展研究以更好地明确可指导治疗选择的内在机制。在大多数情况下，病情严重程度提示需进行异基因骨髓移植。
