Chediak-Higashi syndrome (CHS)

background

Chediak-Higashi syndrome (CHS), also called Begnez-Cesar's syndrome, is an inherited immune system disorder that is passed down from parents to their children. CHS is characterized by chronic infections, non-pigmented (colorless) skin, brain disease, and early death.
Patients develop the disorder when they inherit a mutated (abnormal) gene from each of their parents. While the mutated gene affects several areas of the body, it has the biggest impact on the body's immune system, which protects the body from diseases and infections. The mutated gene prevents white blood cells from functioning properly. Since white blood cells play a vital role in protecting the body from foreign invaders that make patients sick, such as bacteria, fungi, and viruses, CHS patients have an increased risk of developing infections.
CHS is just one type of disorder that falls under the general category of oculocutaneous albinism. Oculocutaneous albinism disorders are conditions that cause a decrease in the pigment (color) of the eyes and skin. As a result, the skin is a pale white and the eyes are blue.
Although it is currently unknown how many patients develop this disorder, it believed to be extremely rare.
Currently, the only potential cure for the immunological symptoms of CHS is a bone marrow transplant. Most patients who do not receive a bone marrow transplant die within the first 10 years of life. Death is usually the result of infection, bleeding, or development of a lymphoma-like response to an infection.

Related Terms

Albinism, antineoplastic agents, antivirals, autosomal recessive disorder, autosomal recessive trait, bone marrow transplant, cancer, genetic disorder, genetic testing, granules, immune, immune defense system, immune modulators, immune system, immunocompromised, immunodeficiency, immunostimulants, infection, inherited disorder, intracellular granules, lymphoma, melanin, mental retardation, neuropathy, neutrophil, non-pigmented skin, primary immune deficiency, primary immunodeficiency, recurrent infections, weakened immune system, white blood cells.