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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

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.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Hepatic veno-occlusive disease with immunodeficiency?"},{"bodyHtml":"

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.

Source: MedlinePlus Genetics

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