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Article

Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design.

Immunity - 11 Jul 2023

Wang Yusha, Wang Jun, Zheng Wenjie, Zhang Jiahui, Wang Jinbo, Jin Taijie, Tao Panfeng, Wang Yibo, Liu Chenlu, Huang Jiqian, Lee Pui Y, Yu Xiaomin, Zhou Qing

Abstract excerpt

The interleukin 1 (IL-1) pathway signals through IL-1 receptor type 1 (IL-1R1) and emerges as a central mediator for systemic inflammation. Aberrant IL-1 signaling leads to a range of autoinflammatory diseases. Here, we identified a de novo missense variant in IL-1R1 (p.Lys131Glu) in a patient with chronic recurrent multifocal osteomyelitis (CRMO). Patient PBMCs showed strong inflammatory signatures, particularly...

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PMID: 37315560
DOI: 10.1016/j.immuni.2023.05.014

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Source receipt: pubmed, retrieved 7 Sept 2026.

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