Autoimmune and lymphoproliferative features observed in the present patients were initially diagnosed as manifestations of ALPS, but are likely to be related to CBL syndrome, particularly in the presence of a concomitant pathogenic variant in SH2B3. A comparable phenomenon has been associated with upregulated RAS function [29, 30]. The gene discussed is SH2B3; the disease is autoimmune lymphoproliferative syndrome.