It is of interest that the p.R1016 * mutation was seen in compound-heterozygous state with a p.M392T mutation in two unrelated patients with a notable phenotype: clinical and histopathological characteristics of MVID were documented in the first years of life in both patients, but MVID resolved completely during childhood, whereas MYO5B-PFIC manifested subsequently at ages of 7 and 15 years in these patients. The gene discussed is ATP8B1; the disease is microvillus inclusion disease.