Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy-Reference-Cited by-同舟云学术

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Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy

Published:2024-08-06 Issue:1 Volume:15 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Idiiatullina Elina^ORCID,Al-Azab Mahmoud,Lin Meng,Hrovat-Schaale Katja^ORCID,Liu Ziyang^ORCID,Li Xiaotian,Guo Caiqin,Chen Xixi,Li Yaoying,Gao Song^ORCID,Cui Jun^ORCID,Zhou Wenhao^ORCID,Liu Li,Zhang Yuxia^ORCID,Masters Seth L.^ORCID

Funder

National Science Foundation of China | National Natural Science Foundation of China-Yunnan Joint Fund

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41467-024-50878-w.pdf

Reference57 articles.

1. Ablasser, A. & Hur, S. Regulation of cGAS- and RLR-mediated immunity to nucleic acids. Nat. Immunol. 21, 17–29 (2020).

2. Goubau, D., Deddouche, S. & Reis e Sousa, C. Cytosolic sensing of viruses. Immunity 38, 855–869 (2013).

3. Rodero, M. P. & Crow, Y. J. Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview. J. Exp. Med. 213, 2527–2538 (2016).

4. Rice, G. I. et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46, 503–509 (2014).

5. Oda, H. et al. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am. J. Hum. Genet 95, 121–125 (2014).

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