Cantarini L, Vitale A, Lucherini O M, Muscari I, Magnotti F, Brizi G, Frediani B, Sebastiani G D, Galeazzi M, Rigante D
Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy.
Reumatismo. 2013 Jun 12;65(2):55-62. doi: 10.4081/reumatismo.2013.55.
Autoinflammatory disorders are characterized by spontaneous episodes of systemic inflammation deriving from inherited defects of the innate immune system. Childhood is usually the lifetime involved in most inherited autoinflammatory disorders, but a moderate number of patients may experience disease onset during adulthood. Herein we report our experience in the clinical and genetic approach to the diagnosis of autoinflammatory disorders in regard of the first 500 pediatric and adult patients evaluated during the period 2007-2012 in our Center, due to histories of periodically-recurring inflammatory attacks, giving emphasis to the differences observed according to patients'age and to the most relevant data differentiating child and adult-onset autoinflammatory disorders in the medical literature.
自身炎症性疾病的特征是由先天性免疫系统的遗传缺陷引起的全身性炎症自发发作。儿童期通常是大多数遗传性自身炎症性疾病的发病阶段，但也有相当数量的患者可能在成年期发病。在此，我们报告了2007年至2012年期间在我们中心评估的首批500例儿科和成年患者中，针对周期性复发性炎症发作病史进行自身炎症性疾病诊断的临床和遗传学方法的经验，重点强调了根据患者年龄观察到的差异以及医学文献中区分儿童和成人发病的自身炎症性疾病的最相关数据。
