Previously, in humans, chromosome 11q terminal deletions (11q−) containing ETS1 and ETS1 variations have been implicated in the pathogenesis of Jacobsen syndrome (JS), a rare chromosomal/genetic disorder characterized by a wide spectrum of phenotypes with varying degrees of severity, including congenital heart defects, facial dysmorphisms, intellectual disability, autism and attention deficit, immunodeficiency, genitourinary tract deformities, growth restriction, and thrombocytopenia [111,112,113]. Here, ETS1 is linked to immunodeficiency disease.