IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses
Yudie Fei, Lin Liu, Shuangyue Ma, Ying Jin et autres
Interleukin-1 receptor-associated kinase 2 (IRAK2) is essential for the Myddosome complex formation downstream of Toll-like receptors. We identify twelve patients with a homozygous loss-of-function copy number variant in IRAK2, designated IRAK2-∆ex2. Most patients present with recurrent infections, autoantibody production, and gastrointestinal ulceration. …
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2 citations
Nature Communications