A systematic approach to understanding how patient variants affect the activity of Wiskott-Aldrich syndrome protein
Lia Gonçalves Pinho, Marcus Rafael Bezerra, Axel Leppert, Rhaissa Calixto Vieira, Katharina Riffelsberger, Julia Schwekendiek, Minghui He, Márton Keszei, Julien Record, Ulf Tedgard, Fredrik Kahn, Mikael Sundin, Annick van de Ven, Jolanta Bernatoniene, Kim Ramme, , Lisa S. Westerberg
This paper systematically analyzes how patient variants affect WASp activity, identifying gain-of-function and loss-of-function variants through structural and functional assays.
bioRxiv · May 21, 2026 · PreprintImmunology