NCKAP1L and immunodeficiency disease: For example, LOF variants in the NCKAP1 gene encoding HEM2 in humans have been associated with neurodevelopmental disorders with features of autism (60, 61), whereas LOF variants in NCKAP1L encoding HEM1 are associated with immunodeficiency, hyperinflammation, and autoimmunity [discussed below and reviewed in (62)].