Author

Qing Zhou

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Open access Sep 2026

Cytotoxic lymphocyte death drives monocyte activation and TNF/IFN-γ synergism in TBK1 deficiency

TBK1 deficiency drives the pathogenesis of inborn errors of cell death (IECDs). However, the underlying cellular mechanisms remain unclear. Here, we identified a novel homozygous loss-of-function TBK1 variant resulting in exon 18 deletion (p.R621Sfs*21) that led to loss of TBK1 expression in a patient with system...

Xu Han, Jialin Dai, Ji-Hong Xiao et al. · Cell Death & Disease · 0 citations

Jul 2026

A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

An upregulated interferon signature was revealed, and monocytes were identified as a major cellular source of inflammation in patients with SPENCDI, expanding the genetic and clinical spectrum of ACP5 deficiency.

Shiling Zhong, Shuang-Yue Ma, Y. El Chazli et al. · Arthritis & Rheumatology · 0 citations