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Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6.
Cell. 2021.
PMID: 34363755
Free PMC article.
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.
Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, Rosain J, Buta S, Bousfiha A, Casanova JL, Bustamante J, Bogunovic D.
Gruber C, et al.
J Exp Med. 2020 May 4;217(5):e20192319. doi: 10.1084/jem.20192319.
J Exp Med. 2020.
PMID: 32092142
Free PMC article.
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