Article
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.
Journal of clinical immunology - 1 Aug 2025
Bar-On Zahala, Reuven Or, Lev Atar, Simon Amos J, Salaymeh Wajeeh, Shalom Alit, Somech Raz, Barel Ortal, Porges Sigal, Javasky Elisheva, Molho-Pessach Vered, Granot Zvi, Bijaoui Dan, Neuman Tzahi, Tal Yuval, Baniyash Michal, Berger Michael, Shamriz Oded
Abstract excerpt
PURPOSE: Baraitser-Winter syndrome type 1 (BRWS1) is a rare disorder characterized by intellectual disability, short stature, facial dysmorphism, cortical malformations, macrothrombocytopenia, and recurrent infections. BRWS1 is caused by loss-of-function variants in ACTB, leading to β-actin deficiency. Given the essential role of the actin cytoskeleton in T-cell activation, the immunological consequences of ACTB...
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