Chediak-higashi syndrome

Chediak-Higashi syndrome is a rare autosomal recessive disorder that primarily affects the immune system. This syndrome is characterized by a reduced ability to fight off infections, partial albinism, and problems with the nervous system.

Causes

Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein that is involved in the transport of materials within cells. Mutations in the LYST gene disrupt the normal function of lysosomes, which are compartments within cells that digest and recycle different types of molecules.

Symptoms

The most common symptoms of Chediak-Higashi syndrome include a weakened immune system, which makes individuals more susceptible to infections, and partial albinism, which results in lighter-than-normal skin, hair, and eye color. Other symptoms can include problems with the nervous system, such as neuropathy, ataxia, and dementia.

Diagnosis

Diagnosis of Chediak-Higashi syndrome is typically based on the presence of characteristic clinical features. Laboratory testing can reveal abnormalities in white blood cells, and genetic testing can identify mutations in the LYST gene.

Treatment

Treatment for Chediak-Higashi syndrome is primarily aimed at managing the symptoms. This can include antibiotics to treat infections, and in severe cases, bone marrow transplant may be considered.

Prognosis

The prognosis for individuals with Chediak-Higashi syndrome varies. Some individuals have a mild form of the disorder and live into adulthood, while others have a more severe form and may not survive past childhood.

See also

• List of genetic disorders
• Immunodeficiency
• Albinism