We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 (<i>ABCB4)</i> gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease. The gene discussed is ABCB4; the disease is Epstein-Barr virus infection.