Associated Papers
Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.
Ashihara K et al.
Jci Insight, 2025
The structure of the IL-11 signalling complex provides insight into receptor variants associated with craniosynostosis.
Sentosa DD et al.
The Febs Journal, 2025
Structural insights into IL-11-mediated signalling and human IL6ST variant-associated immunodeficiency.
Gardner S et al.
Nature Communications, 2024
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH et al.
Journal of Clinical Immunology, 2023
Structural insights into the assembly of gp130 family cytokine signaling complexes.
Zhou Y et al.
Science Advances, 2023
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen YH et al.
The Journal of Allergy and Clinical Immunology, 2021
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Chen YH et al.
The Journal of Experimental Medicine, 2020
Recent human genetic errors of innate immunity leading to increased susceptibility to infection.
Moens L et al.
Current Opinion in Immunology, 2020
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T et al.
Haematologica, 2019
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.
Arora V et al.
Molecular Syndromology, 2019
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T et al.
The Journal of Experimental Medicine, 2017
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