The Lautenberg Center for Immunology and Cancer Research proudly congratulates Dr. Oded Shamriz, Zahala Bar-On, Or Reuven, Prof. Michael Berger, and Prof. Michal Baniyash on the publication of their groundbreaking study, titled “β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies”, in the Journal of Clinical Immunology.
In this study, the authors uncover how a novel, dominant-negative mutation in the β-actin gene (ACTB) disrupts T-cell cytoskeletal integrity and impairs immune function in a patient with Baraitser-Winter Syndrome Type 1 (BRWS1). The defective β-actin destabilizes immunological synapse formation, reduces IL-2 signaling, and severely limits T-cell activation, proliferation, and regulatory T-cell generation. Remarkably, the study demonstrates that supplementing IL-2 in vitro and treating the patient with dupilumab, an inhibitor of the IL-4/IL-13 receptor, partially restores immune function and improves clinical outcomes. The study contributes to our understanding of how cytoskeletal abnormalities affect immune regulation and highlights potential directions for future therapeutic strategies.
