In our case, phenotype strongly suggested HPS2, so we confirmed the diagnosis with the WES study, as it resembles other secretopathies like Chediak Higashi syndrome, Griscelli syndrome, and familial hemophagocytic lymphohistiocytosis (HLH) disorders, which might become complicated by episodes of the hemophagocytic syndrome in response to viral infection. This evidence concerns the gene AP3B1 and hemophagocytic syndrome.