Skip to main content
. 2023 Jan 6;212(2):137–146. doi: 10.1093/cei/uxad001

graphic file with name uxad001_fig3.jpg

Both gain- and loss-of-function mutations in Wiskott-Aldrich syndrome (WAS) and RAC2 are found throughout the genes, causing immunodeficiencies involving leukocyte actin remodeling. Patient phenotypes differ based on gain or loss of protein function or loss of protein. This review highlights the correlation between WAS and RAC2 mutations and patient presentations and explores the expanding cellular roles recognized for the two proteins.