Similarly, a recent case report of a 21-year-old male presenting with EBV+ HLH showed presence of a pathogenic variant in SH2D1A (p.E17K), leading to a normally expressed mutant protein with diminished binding to phosphorylated 2B4 receptor (important for NK-cell activation) (114). The gene discussed is SH2D1A; the disease is hemophagocytic syndrome.