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- W4381687098 abstract "Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dysmorphisms. This defect compromises multiple cell lineages and functions, and when protein expression is reestablished in-vitro, the Arp2/3 complex conformation and functions are rescued. As part of the pathophysiological evaluation, we also show that interleukin (IL)−6 signaling is distinctively impacted in this syndrome. Disruption of IL-6 classical but not trans-signaling highlights their differential roles in the disease and offers perspectives for therapeutic molecular targets." @default.
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- W4381687098 date "2023-06-22" @default.
- W4381687098 modified "2023-10-01" @default.
- W4381687098 title "Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling" @default.
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- W4381687098 doi "https://doi.org/10.1038/s41467-023-39272-0" @default.
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