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Genetics Home Reference: your guide to understanding genetic conditions
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Hepatic veno-occlusive disease with immunodeficiency

(often shortened to VODI)
Reviewed January 2009

What is VODI?

Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.

Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.

How common is VODI?

VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy.

What genes are related to VODI?

VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.

Related Gene(s)

Changes in this gene are associated with hepatic veno-occlusive disease with immunodeficiency.

  • SP110

How do people inherit VODI?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of VODI?

These resources address the diagnosis or management of VODI and may include treatment providers.

  • Gene Review: Hepatic Veno-occlusive Disease with Immunodeficiency (http://www.ncbi.nlm.nih.gov/books/NBK1271/)
  • Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1856128)

You might also find information on the diagnosis or management of VODI in Educational resources (http://www.ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about VODI?

You may find the following resources about VODI helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for VODI?

  • familial veno-occlusive disease with immunodeficiency
  • hepatic venoocclusive disease with immunodeficiency
  • veno-occlusive disease and immunodeficiency syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about VODI?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding VODI?

autosomal ; autosomal recessive ; bacteria ; candidiasis ; cell ; familial ; fibrosis ; gene ; hepatic ; hereditary ; immune response ; immune system ; immunodeficiency ; infection ; inherited ; liver failure ; occlusion ; protein ; recessive ; syndrome ; tissue ; vascular ; veins ; venoocclusive disease ; veno-occlusive disease

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenat Diagn. 2007 Jul;27(7):674-6. (http://www.ncbi.nlm.nih.gov/pubmed/17510920?dopt=Abstract)
  • Gene Review: Hepatic Veno-occlusive Disease with Immunodeficiency (http://www.ncbi.nlm.nih.gov/books/NBK1271/)
  • Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006 Jun;38(6):620-2. Epub 2006 Apr 30. (http://www.ncbi.nlm.nih.gov/pubmed/16648851?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2009
Published: July 21, 2014