Chediak–Higashi syndrome

Chediak–Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder that primarily affects the immune system. It is characterized by a reduced ability to fight off infections, partial albinism, and a range of other symptoms. The syndrome is named after the two physicians who first described it, Cuban doctor Alexis Chediak and Japanese doctor Toru Higashi.

Etiology

CHS is caused by mutations in the LYST gene, which is involved in the regulation of lysosome size and function. The mutations lead to the formation of abnormally large lysosomes in various types of cells, including white blood cells that play a crucial role in the immune response.

Symptoms and Signs

The most common symptoms of CHS include partial albinism, leading to light skin and hair color, and problems with the immune system, which can result in frequent infections. Other symptoms can include neurological disorders, bleeding disorders, and an enlarged liver and spleen.

Diagnosis

Diagnosis of CHS is typically based on the presence of characteristic clinical symptoms, the identification of abnormally large lysosomes in white blood cells, and genetic testing to identify mutations in the LYST gene.

Treatment

There is currently no cure for CHS. Treatment is primarily supportive and aimed at managing the symptoms. This can include antibiotics to treat infections, blood transfusions to manage bleeding disorders, and in severe cases, bone marrow transplantation.

Prognosis

The prognosis for individuals with CHS varies. Some individuals have a relatively mild form of the disease and can live into adulthood, while others have a more severe form that can lead to early death, often due to infections or complications of the neurological disorder.

See Also

• List of genetic disorders
• Immunodeficiency
• Albinism

NIH genetic and rare disease info

• NIH info on Chediak–Higashi syndrome

Chediak–Higashi syndrome is a rare disease.

Chediak–Higashi syndrome Resources
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