Mutation of an L-Type Calcium Channel Gene Leads to a Novel Human Primary Cellular Immunodeficiency
F. Fenninger, S. R. Stanwood, C.-J. Lu, C. G. Pfeifer, O. Khan, N. D. Romberg, R. Herati, E. J. Wherry, K. C. O'Boyle, S. E. Henrickson, K. Maurer, M. A. Ruffner, W. A. Jefferies, K. E. Sullivan
This study identifies a mutation in the Cav1.4 gene causing a primary immunodeficiency with immune dysfunction and recurrent infections.
bioRxiv · Dec 4, 2019 · PreprintImmunology