The past, present and future of autoinflammatory diseases

Abstract

<p indent="0mm">The concept of autoinflammatory disease originated from the recognition of a class of monogenic diseases that appeared to produce inflammation in the absence of an obvious trigger, but without the high titer of autoantibodies or antigen-specific T cells seen in classical autoimmune diseases. Over the decades of the burgeoning field of autoinflammation, the relationship between autoinflammatory diseases and the innate immune system has become clearer, and the relationship between the two is strongly supported by a variety of targeted therapies. While “inflammasomopathy” associated with large production of interleukin-1β (IL-1β) was the first recognized autoinflammatory disease, it was soon discovered that autoinflammatory diseases can be caused by a variety of genetic variants affecting a range of intrinsic immune signaling pathways, including the nuclear factor-κB (NF-κB) pathway and the type I interferon pathway. These newly discovered diseases, causative genes and signaling pathways are inseparable from the rapid advances in next-generation sequencing (NGS), genome-wide association studies (GWAS) and other technologies. Chinese scholars, especially those at PUMCH, have made outstanding contributions in the field of autoinflammatory diseases in children, using a variety of research tools and abundant clinical case resources. In the future, the spectrum of autoinflammatory diseases will further expand, and the boundaries with other diseases, such as autoimmune diseases, will continue to cross, penetrate and even integrate, and the understanding of the intrinsic immune system will become more profound.