Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity

With the expansion of our knowledge on inborn errors of immunity (IEI), it gradually becomes clear that immune dysregulation plays an important part. In some cases, autoimmunity, hyperinflammation and lymphoproliferation are far more serious than infections. Thus, immune dysregulation has become significant in disease monitoring and treatment. In recent years, the wide application of whole-exome sequencing/whole-genome sequencing has tremendously promoted the discovery and further studies of new IEI. The number of discovered IEI is growing rapidly, followed by numerous studies of their pathogenesis and therapy. In this review, we focus on novel discovered primary immune dysregulation diseases, including deficiency of SLC7A7, CD122, DEF6, FERMT1, TGFB1, RIPK1, CD137, TET2 and SOCS1. We discuss their genetic mutation, symptoms and current therapeutic methods, and point out the gaps in this field.

Automated summary

As our understanding of inborn errors of immunity expands, it is becoming increasingly clear that immune dysregulation plays a crucial role in diseases. The widespread use of whole-exome sequencing/whole-genome sequencing has significantly accelerated the discovery and research of new IEI. Researchers have focused on discussing newly discovered primary immune dysregulation diseases, including their genetic mutations, symptoms, and treatment methods.