Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Hepatic Veno-occlusive Disease with Immunodeficiency (VODI)

  • Donald B. Bloch
  • Mike RecherEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_178-1



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


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...

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Rheumatology, Allergy and Immunology, Department of Medicine and the Anesthesia Center for Critical Care Research of the Department of Anesthesia, Critical Care, and Pain MedicineHarvard Medical School and Massachusetts General HospitalBostonUSA
  2. 2.Immunodeficiency laboratory and Immunodeficiency Clinic, Medical Outpatient Unit and Department BiomedicineUniversity Basel HospitalBaselSwitzerland

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA