case_images: PMC10637728_01
case_images: PMC10637728_02
case_images: Electropherogram of RAB27A gene sequencing showing the compound heterozygous mutation.
case_images: 1678-9849-rsbmt-56-e0322-2023-gf1.jpg
case_images: PMC10637728_02_1678-9849-rsbmt-56-e0322-2023-gf1.jpg
case_images: f1
case_images: Next-generation sequencing (NGS) was performed for a panel of genes associated with familial hemophagocytic lymphohistiocytosis, which showed a compound heterozygous mutation in the RAB27A gene (Figure 1), diagnostic of Griscelli Syndrome type II.