Primary Immunodeficiency (PI) is an umbrella term for over 350 genetic defects and disorders of the immune system recognized by the World Health Organization. Together they affect approximately 29,000 Canadians. Primary Immunodeficiency is not considered a rare disease as a category, but each individual form of PI is rare.
There is currently 1 name in this directory beginning with the letter V.
Veno-occulusive Disease
Hepatic veno-occlusive disease (VODI) is a very rare immunodeficiency. The disorder is hereditary, and leads to the impairment of both T-cells and B-cells. Along with a weakened immune system, the disorder also affects the liver. The condition can lead to the liver becoming enlarged (hepatomegaly) and building up scar tissue (hepatic fibrosis). At worst, it can lead to liver failure.
IVIG treatment and prophylaxis for fungal infection are necessary after diagnosis. A liver transplant may be required, but there is a high risk of complications. VODI is so rare, only 20 affected families have been recorded worldwide. Most individuals with VODI have been of Lebanese descent.
Credits: Immune Deficiency Foundation, Genetics Home Reference