So happy to see this out @JExpMed - epic effort led by @ElissaDeenick #Scientia A/Prof @UNSWMedicine & @GarvanInstitute. PIK3R1 LOF & PIKCD GOF - same but diff't! Amazing collab with @Tangye_Lab et al. Big congrats to 1st authors Nguyen, Lau & @bier_julia!
https://rupress.org/jem/article/220/6/e20221020/213955/Human-PIK3R1-mutations-disrupt-lymphocyte