GATA2 and immune system disorder: This phenotype could be partially rescued by removal of Gata3. Last, monoallelic loss-of-function variants in GATA2 and in the +9.5-kb blood GATA2 enhancer element cause blood and immune dysfunction without facial weakness63,64, consistent with altered, not reduced, GATA2 expression in HCFP1 and highlighting the importance of tissue-specific regulation.