A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)
Brice Calco, Colin L. Sweeney, Joseph P. Steiner, Tongguang Wang, Tovah E. Markowitz, Subrata Paul, Bianca Palicha, Sara Dinges, Kelsey Yoo, Lisa J. Henderson, Valerie McDonald, Suk See De Ravin, Benjamin M. Greenberg, Christa S. Zerbe, Luigi Daniele Notarangelo, , Farinaz Safavi
The paper identifies a novel PIK3R1 frameshift mutation linked to immunodeficiency and ALS, showing haploinsufficiency causes neuronal dysfunction and apoptosis.
bioRxiv · May 23, 2025 · PreprintNeuroscience