EPSTI1 and Schwartz-Jampel syndrome: Bulk transcriptome analyses of monocytes identified a number of significant genes aberrantly expressed in the monocytes of SjS patients such as TRIM22, MX2, MS4A4A, IFI44, IFIT2, STAT2, SAMD9L, STAT1, EPSTI1, IFI44L, SIGLEC1, TNFSF10, CX3CR1 and ISG15 (Figure 3A).