ArticleThe Journal of experimental medicine2020
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Article in The Journal of experimental medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Refining therapeutic targeting of interleukin-6 by signalling mode selectivity.Nature reviews. Drug discovery · 2026Review
- Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy.Journal of human immunity · 2026Article
- Human germline biallelic loss-of-functionJournal of human immunity · 2026Article
- Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.Clinical case reports · 2026Article
- Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.JCI insight · 2025Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Article
- Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.The Journal of clinical investigation · 2025Article
- IL-6 Signaling in Immunopathology: From Basic Biology to Selective Therapeutic Intervention.ImmunoTargets and therapy · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.Journal of clinical immunology · 2024Article
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.Journal of clinical immunology · 2023Review
- Structures of the interleukin 11 signalling complex reveal gp130 dynamics and the inhibitory mechanism of a cytokine variant.Nature communications · 2023Article
- DNA methylation at the suppressor of cytokine signaling 3 (SOCS3) gene influences height in childhood.Nature communications · 2023Article
- Inherited human ZNF341 deficiency.Current opinion in immunology · 2023Review
- Structural insights into the assembly of gp130 family cytokine signaling complexes.Science advances · 2023Article
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 7 countries.
Funding
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.
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Registered trials
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