SAMHD1 and Schwartz-Jampel syndrome: Through scRNA-seq transcriptome analyses, a number of significant DEGs in monocyte subsets of SjS patients were identified, such as TMEM176B, TMEM176A, HLA-DRB5, FOS, TXNIP, ARPC1B, GRN, FGL2, SAMHD1, CEBPD, CTSZ, HLA-DQB1, SNX17, TNFSF10, WASF2, ATP5A1, ZFP36L2 and CORO1A (Figures 2A, B).