They have also already highlighted the heterogenous phenotypes that can result from variants in the same gene (e.g., CDC42 [33–39, 52]), indicated that significant diseases can arise from mono-allelic or bi-allelic loss of function (IL6ST [9], RIPK1 [42, 43]) or bi-allelic loss- or gain-of-function (CEBPE [24], STAT2 [40, 41]) variants in the same gene, or from autoAb phenocopies of monogenic lesions (e.g., COVID19 and anti-IFN Abs) [48], and identified novel somatic mutations as pathogenic causes of immune disorders (UBA1) [47]. The gene discussed is CEBPE; the disease is immune system disorder.