Moreover, 36% of cases had potentially targetable mutations that will be suitable for new therapeutic approaches including rapamycin inhibitors (in ALPS or a PIK3d activation syndrome) (103, 104), CTLA-4 fusion protein (in CTLA-4 and LRBA deficiency) (105, 106), JAK inhibitors (in patients with JAK1 or JAK2 mutations) (107), and calcineurin inhibitors (in patients with NFATC1 variants) (108). Here, CTLA4 is linked to autoimmune lymphoproliferative syndrome.