Article
Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.
Nature communications - 6 Aug 2024
Idiiatullina Elina, Al-Azab Mahmoud, Lin Meng, Hrovat-Schaale Katja, Liu Ziyang, Li Xiaotian, Guo Caiqin, Chen Xixi, Li Yaoying, Gao Song, Cui Jun, Zhou Wenhao, Liu Li, Zhang Yuxia, Masters Seth L
Abstract excerpt
Mitochondrial RNA (mtRNA) in the cytosol can trigger the innate immune sensor MDA5, and autoinflammatory disease due to type I IFN. Here, we show that a dominant negative mutation in the gene encoding the mitochondrial exonuclease REXO2 may cause interferonopathy by triggering the MDA5 pathway. A patient characterized by this heterozygous de novo mutation (p.T132A) presented with persistent skin rash featuring...
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