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URL of this page: https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/

Hepatic veno-occlusive disease with immunodeficiency

Description

Hepatic veno-occlusive disease with immunodeficiency (VODI) is a disorder of the liver and immune system. Its signs and symptoms typically appear before six months of age.

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 have immune systems that do not function normally. They are vulnerable to recurrent infections that are caused by certain bacteria, viruses, and fungi. Affected individuals experience frequent colds or bouts of pneumonia. The infections are likely related to lower-than-normal levels of immune system cells, including special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM), immunoglobulin G (IgG), and immunoglobulin A (IgA). Antibodies attach to specific foreign particles, marking them for destruction. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

Some children with VODI have neurological problems due to blocked blood flow in the brain.

If untreated, children with VODI do not survive past infancy. With treatment, many people with VODI can live into childhood and sometimes into their teens.

Frequency

VODI appears to be a rare disorder; more than 20 affected families have been reported worldwide. Though most of the people with this condition have been of Lebanese ancestry, this disorder has also been identified in individuals from other countries.

Causes

VODI is caused by variants (also called mutations) in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein. This protein plays a role in cell division, the self-destruction of cells that are damaged or no longer needed (apoptosis), and the normal function of the immune system. This protein likely helps regulate the activity of genes that are needed for the body's immune response to foreign invaders, such as viruses and bacteria.

Variants in the SP110 gene prevent cells from making enough functional SP110 nuclear body protein to allow the immune system to fight off infections effectively. This loss of protein causes immunodeficiency in people with VODI. It is unclear whether a lack of functional protein causes liver disease or if the liver problems are a result of unregulated apoptosis or recurrent infections.

Learn more about the gene associated with Hepatic veno-occlusive disease with immunodeficiency

Inheritance

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

Other Names for This Condition

  • Familial veno-occlusive disease with immunodeficiency
  • Hepatic venoocclusive disease with immunodeficiency
  • Veno-occlusive disease and immunodeficiency syndrome
  • VODI

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

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. doi: 10.1002/pd.1759. Citation on PubMed
  • Hamdoun O, Al Mulla A, Al Zaabi S, Shendi H, Al Ghamdi S, Hertecant J, Al-Shibli A. Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency. Case Rep Pediatr. 2020 Jan 10;2020:3460631. doi: 10.1155/2020/3460631. eCollection 2020. Citation on PubMed
  • 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. doi: 10.1038/ng1780. Epub 2006 Apr 30. Citation on PubMed
  • Roscioli T, Ziegler JB, Buckley M, Wong M. Hepatic Veno-Occlusive Disease with Immunodeficiency. 2007 Feb 21 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1271/ Citation on PubMed

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