Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper‐IgE Syndrome Likely by Impaired STAT3‐Dimer Formation. [[{“value”:”Beate Hagl, Benedikt D. Spielberger, Betina Neumann, Simon J. Pelham, Dharmendra Pandey, Andreas Schlundt, Camille Barro, Anica Lechner, Christine Wolf, Elissa K. Deenick, Michael Sattler, Stuart G. Tangye, Simon Rothenfusser, Ellen D. Renner”}]]
In a patient with the classical clinical phenotype of STAT3-hyper-IgE syndrome, we identified the previously unreported STAT3 variant p.K709N to be disease-causing. Molecular analyses revealed that STAT3 p.K709N exerts a dominant-negative effect, leading to impaired STAT3 dimerization and reduced STAT3 target gene expression. Source: Created in BioRender. Hagl B. (2025) https://BioRender.com/80tycxp. ABSTRACT STAT3-hyper-IgE syndrome (STAT3-HIES) … Read more