The immunology community has made a case for PID diagnosis to be supported using transcriptional profiling using whole-transcriptome sequencing (Moens et al., 2014), and these are being answered with examples in primary immunodeficiency cases such as Dock8 CID, GATA2 deficiency, and X-linked reticulate pigmentary disorder (XLPDR) (Hsu et al., 2013; Khan et al., 2016; Starokadomskyy et al., 2016). This evidence concerns the gene GATA2 and X-linked reticulate pigmentary disorder.