Chediak-Higashi syndrome is a rare inherited genetic disorder that affects the immune system and many parts of the body. The disease damages the cells of the immune system, which leaves them unable effectively to fight off viruses and bacteria. Beginning with infancy or early childhood most people with Chediak-Higashi syndrome have repeated and persistent infections. Few people with this condition live to adulthood because the infections tend to be very serious or life-threatening. People with this syndrome also have abnormally light pigmentation of the skin, hair, and eyes known as oculocutaneous albinism. Those affected usually have fair skin and light-colored hair, which has a metallic sheen. Oculocutaneous albinism also causes vision problems including reduced sharpness, rapid involuntary eye movements, and increased sensitivity to light. Most people also have problems with blood clotting that leads to abnormal bleeding and bruising easily. This condition can affect the nervous system, causing seizures, weakness, clumsiness, and difficulty with walking in adulthood.

There is a severe phase of the disorder thought to be triggered by a viral infection. Most children with Chediak-Higashi syndrome ultimately reach this stage known as the accelerated phase. Defective white blood cells divide uncontrollably and invade many of the body's organs in the accelerated phase. There is fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. In childhood, these medical problems are usually life threatening.

There is a small percentage of people who have a milder form of the condition that appears later in life. They have less noticeable changes in pigmentation and are less likely to have recurrent, severe infections. They risk progressive neurological problems such as tremors, difficulty with movement and balance, reduced sensation, weakness in the arms and legs, and decline in intellectual functioning.

Mutations in the LYST gene cause Chediak-Higashi syndrome. They have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation. This condition is inherited in an autosomal recessive pattern. If you are concerned about this condition when considering adoption then you should know that both parents would have to carry a copy of the mutated gene. However, the parents of a person with an autosomal recessive condition typically do not show signs and symptoms of the condition.

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