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Genetic Immune Diseases

Immunodeficiency diseases decrease the body’s ability to fight off bacteria and viruses, thus leading to frequent and more severe illnesses. A genetic immune disease is one that can be passed from generation to generation from parents to children. Genetic immune diseases can be very rare and quite fatal, but some may be able to be treated with stem cell transplantation.

  1. Chediak-Higashi Syndrome

    • Chediak-Higashi syndrome is a genetic immune disease that damages immune system cells, thus the immune system is unable to fight off bacteria and viruses. Chediak-Higashi syndrome is so severe that, according to Genetics Home Reference, very few people with the disease survive into adulthood. One characteristic of someone with this genetic immune disease is albinism, leading to light hair, eyes and skin. Bruising is another physical characteristic of the genetic immune disease: Chediak-Higashi syndrome affects the body’s ability to blood clot, leading to bruising and abnormal bleeding. Fortunately, it is a rare syndrome, and fewer than 200 people worldwide have been reported to have the disease.

    Milroy Disease

    • Milroy disease is a genetic immune disease that begins in the lymphatic system. Since the lymph nodes are responsible for producing and transporting immune cells throughout the body, when a genetic disease affects this system, it is greatly affecting the immune system. Physical characteristics of this genetic immune disease can be upslanting toenails, papillomas and very noticeable leg veins. According to Genetics Home Reference, Milroy disease is rare and its incidence is unknown.

    Hepatic Veno-Occlusive Disease with Immunodeficiency

    • Also referred to as VODI, hepatic veno-occlusive disease with immunodeficiency is a disorder of both the immune system and the liver that can be passed from parents to their children. The disease causes blockage of veins, which disrupt the blood flow to the liver. This can eventually lead to liver failure. The genetic immune disease affects more Lebanese than other ethnicities and is so rare that only 20 cases have been reported worldwide. The prognosis is grim; many only live through childhood, while a few have lived to early adulthood years.

    Schimke Immuno-Osseous Dysplasia

    • Schimke iImmuno-osseous dysplasia is a rare genetic disease that affects only one in a million people. A weakened immune system due to the disease results in fatty deposits and scar tissue lining the arteries. These blockages in the arteries then reduce the blood flow to the brain much like VODI disrupts blood flow to the liver. This reduced blood flow to the brain oftentimes results in migraine headaches for the individual. Other characteristics of Schimke dysplasia are hypothyroidism, irregular menstruation, decreased sperm counts and a smaller than normal head.

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