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- W2999461622 abstract "The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann–like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. We identified essential loss-of-function variants in IL6ST (a homozygous nonsense variant and a homozygous intronic splice variant with exon skipping). Functional tests showed absent cellular responses to GP130-dependent cytokines including IL-6, IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF). Genetic reconstitution of GP130 by lentiviral transduction in patient-derived cells reversed the signaling defect. This study identifies a new genetic syndrome caused by the complete lack of signaling of a whole family of GP130-dependent cytokines in humans and highlights the importance of the LIF signaling pathway in pre- and perinatal development." @default.
- W2999461622 created "2020-01-23" @default.
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- W2999461622 date "2020-01-08" @default.
- W2999461622 modified "2023-10-04" @default.
- W2999461622 title "Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome" @default.
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- W2999461622 doi "https://doi.org/10.1084/jem.20191306" @default.
- W2999461622 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7062520" @default.
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