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Phenotype variability of autoinflammatory disorders in the pediatric patient: A pictorial overview.
Journal of Evidence-Based Medicine ( IF 3.6 ) Pub Date : 2020-07-06 , DOI: 10.1111/jebm.12406
Donato Rigante 1, 2
Affiliation  

Disruption of innate immunity leading to systemic inflammation and multi-organ dysfunction is the basilar footprint of autoinflammatory disorders (AIDs), ranging from rare hereditary monogenic diseases to a large number of common chronic inflammatory conditions in which there is a simultaneous participation of multiple genetic components and environmental factors, sometimes combined with autoimmune phenomena and immunodeficiency. Whatever their molecular mechanism, hereditary AIDs are caused by mutations in regulatory molecules or sensors proteins leading to dysregulated production of proinflammatory cytokines or cytokine-inducing transcription factors, fever, elevation of acute phase reactants, and a portfolio of manifold inflammatory signs which might occur in a stereotyped manner, mostly with overactivity or misactivation of different inflammasomes. Symptoms might overlap in the pediatric patient, obscuring the final diagnosis of AIDs and delaying the most appropriate treatment. Actually, the fast-paced evolution of scientific knowledge has led to recognize or reclassify an overgrowing number of multifactorial diseases, which share the basic pathogenetic mechanisms with AIDs. The wide framework of classic hereditary periodic fevers, AIDs with prominent skin involvement, disorders of the ubiquitin-proteasome system, defects of actin cytoskeleton dynamics, and also idiopathic nonhereditary febrile syndromes occurring in children is herein presented. Interleukin-1 dependence of these diseases or involvement of other predominating molecules is also discussed.

中文翻译:

儿科患者自身炎性疾病的表型变异性:图片概述。

导致全身性炎症和多器官功能障碍的先天免疫力的破坏是自身炎症性疾病(AID)的基础足迹,其范围从罕见的遗传性单基因疾病到大量常见的慢性炎症,其中多个遗传成分同时参与和环境因素,有时会结合自身免疫现象和免疫缺陷。无论其分子机制是什么,遗传性AID都是由调节分子或传感器蛋白的突变引起的,导致促炎性细胞因子或细胞因子诱导的转录因子产生失调,发烧,急性期反应物升高以及一系列可能在体内发生的多种炎症性体征。刻板印象 主要表现为不同的炎症小体过度活跃或失活。小儿患者的症状可能重叠,从而掩盖了对AIDs的最终诊断,并延迟了最合适的治疗。实际上,科学知识的快速发展导致人们认识到或重新分类了数量众多的多因素疾病,这些疾病与AID具有基本的致病机制。本文介绍了典型的遗传性周期性发烧,广泛的皮肤受累的AID,泛素-蛋白酶体系统疾病,肌动蛋白细胞骨架动力学缺陷以及儿童特发性非遗传性高热综合征的广泛框架。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。掩盖了对艾滋病的最终诊断并延迟了最适当的治疗。实际上,科学知识的快速发展导致人们认识到或重新分类了数量众多的多因素疾病,这些疾病与AID具有基本的致病机制。本文介绍了典型的遗传性周期性发烧,广泛的皮肤受累的AID,泛素-蛋白酶体系统疾病,肌动蛋白细胞骨架动力学缺陷以及儿童特发性非遗传性高热综合征的广泛框架。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。掩盖了对艾滋病的最终诊断并延迟了最适当的治疗。实际上,科学知识的快速发展导致人们认识到或重新分类了数量众多的多因素疾病,这些疾病与AID具有基本的致病机制。本文介绍了典型的遗传性周期性发烧,广泛的皮肤受累的AID,泛素-蛋白酶体系统疾病,肌动蛋白细胞骨架动力学缺陷以及儿童特发性非遗传性高热综合征的广泛框架。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。科学知识的快速发展导致人们认识到或重新分类了数量众多的多因素疾病,这些疾病与AID具有基本的致病机制。本文介绍了典型的遗传性周期性发烧,广泛的皮肤受累的AID,泛素-蛋白酶体系统疾病,肌动蛋白细胞骨架动力学缺陷以及儿童特发性非遗传性高热综合征的广泛框架。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。科学知识的快速发展导致人们认识到或重新分类了数量众多的多因素疾病,这些疾病与AID具有基本的发病机制。本文介绍了典型的遗传性周期性发烧,广泛的皮肤受累的AID,泛素-蛋白酶体系统疾病,肌动蛋白细胞骨架动力学缺陷以及儿童特发性非遗传性高热综合征的广泛框架。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。本文还介绍了儿童中发生的特发性非遗传性高热综合征。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。本文还介绍了儿童中发生的特发性非遗传性高热综合征。还讨论了这些疾病的白介素-1依赖性或其他主要分子的参与。
更新日期:2020-07-06
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