The genetic diversity of disease-causing FHL- (PRF1 {FHL-2}, UNC13D {FHL-3}, STXBP2 {FHL-5}) and HLH-related genes (SH2D1A, XIAP, RAB27a, ZNFX1), as well as clinically diagnosed diseases such as chronic granulomatous disease (CGD) and Wolman’s disease, in our cohort is depicted in Figure 2. This evidence concerns the gene RAB27A and Wolman disease.