Interleukin-1 receptor-associated kinase 2 (IRAK2) is essential for Myddosome complex formation downstream of most Toll-like receptors. Here, the authors show a loss-of-function copy number variant of IRAK2 associated with immunodeficiency, autoimmunity, and autoinflammation, which disrupts IRAK2 interaction with IRAK4 and further downstream Myddosome formation, accompanied by enhanced interferon responses.
- Yudie Fei
- Lin Liu
- Qing Zhou