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

Synonyms

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...

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References

  1. Bloch DB, et al. Structural and functional heterogeneity of nuclear bodies. Mol Cell Biol. 1999;19:4423–30.CrossRefGoogle Scholar
  2. Bloch DB, et al. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biol. 2000;20: 6138–46.CrossRefGoogle Scholar
  3. Cliffe ST, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol. 2012;130:735–42.e736.CrossRefGoogle Scholar
  4. Marquardsen FA, et al. Detection of Sp110 by flow cytometry and application to screening patients for veno-occlusive disease with immunodeficiency. J Clin Immunol. 2017;37:707–14.CrossRefGoogle Scholar
  5. Mellis C, Bale PM. Familial hepatic venoocclusive disease with probable immune deficiency. J Pediatr. 1976;88: 236–42.CrossRefGoogle Scholar
  6. Pan H, et al. Ipr1 gene mediates innate immunity to tuberculosis. Nature. 2005;434:767–72.CrossRefGoogle Scholar
  7. Roscioli T, et al. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006;38:620–2.CrossRefGoogle Scholar

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