Biallelic POLE pathogenic variants have also been associated with another rare Mendelian syndrome, IMAGE-I (MIM# 618336), characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, immunodeficiency, and diffuse large B-cell lymphoma [34, 35]. This evidence concerns the gene POLE and immunodeficiency disease.