The often early age of onset of malignancy, immunodeficiency, or other phenotypes for G2DS and apparent anticipation seen in some GATA2 families (Hahn et al., 2011) may explain a lower level of founder effect and lower predominance of germline GATA2 variants in sporadic adult MDS or AML cohorts compared to DDX41 (Kim et al., 2020; Qu et al., 2020; Quesada et al., 2019; Yasuda et al., 2020). Here, GATA2 is linked to Immunodeficiency.