Unidad Clínica de Enfermedades Autoinflamatorias y Unidad de Investigación en Vasculitis, Servicio de Enfermedades Autoinmunes, Hospital Clínic de Barcelona, Universidad de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
Servicio de Inmunología, Hospital Clínic de Barcelona, Universidad de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
Med Clin (Barc). 2018 Jan 23;150(2):67-74. doi: 10.1016/j.medcli.2017.07.012. Epub 2017 Sep 15.
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications. In addition, patients with adult-onset disease carry low-penetrance mutations more often than pathogenic variants. A late-onset of AIFD may be occasionally associated with the presence of somatic mutations. In this study, we review the most frequent monogenic AIFD, and others recently described, which may occur during adulthood.
单基因自身炎症性疾病（AIFD）是一种罕见的疾病，其特征为全身炎症反应失控性增加，这是由炎症途径相关基因的突变引起的。在过去的几年中，已发现新的基因和蛋白质可导致新的单基因 AIFD，并且在其治疗方面取得了实质性的改善。单基因 AIFD 的表现通常在儿童期开始，但也可能发生于成人。与儿科患者相比，成人通常表现为疾病较轻且长期并发症较少。此外，患有成人发病疾病的患者携带低外显率突变的情况比致病性变异更为常见。AIFD 的迟发性发作偶尔可能与体细胞突变的存在有关。在这项研究中，我们回顾了最常见的单基因 AIFD，以及最近描述的可能发生于成年期的其他 AIFD。
