Kallinich T, Hinze C, Wittkowski H
Klinik für Pädiatrie m.S. Pneumologie, Immunologie und Intensivmedizin, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
Sozialpädiatrisches Zentrum (SPZ), Charité - Universitätsmedizin Berlin, Berlin, Deutschland.
Z Rheumatol. 2020 Sep;79(7):624-638. doi: 10.1007/s00393-020-00794-3.
Monogenic autoinflammatory diseases present with systemic inflammation with the involvement of multiple organs. With the help of modern molecular genetic techniques a large number of diseases with previously unknown pathomechanisms have been described in recent years. This knowledge can be utilized to group autoinflammatory diseases according to the signalling pathways involved and thus provide a better understanding of these entities.
单基因自身炎症性疾病表现为全身性炎症,并累及多个器官。近年来,借助现代分子遗传学技术,已描述了大量以前发病机制未知的疾病。这些知识可用于根据所涉及的信号通路对自身炎症性疾病进行分类,从而更好地理解这些疾病实体。