Botto et al. recently described a pattern of spondyloepimetaphyseal skeletal dysplasia in 7 children who received HSCT for IEI which included 4 hemophagocytic lymphohistiocytosis (HLH) (2 perforin deficiency, 1 Munc-13, 1 secondary to Leishmaniasis) and 2 recombination activating gene-1(RAG-1) severe combined immunodeficiency (SCID) patients [15]. Here, RAG1 is linked to skeletal dysplasia.