Hepatic Veno-occlusive Disease with Immunodeficiency (VODI)

Synonyms

OMIM: 235550; Sp110 deficiency

Definition

Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare, combined immunodeficiency caused by homozygous mutations in the gene encoding nuclear body protein Sp110.

Introduction/Background

In 1976, Mellis and Bale described five infants from three families who had hepatomegaly caused by veno-occlusive disease of the liver and evidence of immunodeficiency (Mellis and Bale 1976). The children experienced a variety of infections including those caused by Pneumocystis jiroveci, cytomegalovirus, enterovirus, and Staphylococcus aureus. Because all of the children died within the first year of life and there was a history of consanguinity in two of the three families, Mellis and Bale suggested that there was a congenital cause for this new syndrome (Mellis and Bale 1976).

Thirty years later, Roscioli and colleagues identified six patients from five consanguineous families of Lebanese origin who met the clinical criteria used to...