View source for Chediak-Higashi Syndrome

'''Chediak-Higashi Syndrome''' (''pronunciation: che-dyak-hi-ga-shee syn-drome'') is a rare [[genetic disorder]] that affects multiple systems of the body. The syndrome is characterized by a reduced ability of certain [[immune system]] cells to kill bacteria and other foreign cells, leading to a higher susceptibility to infections. 

==Etymology==
The syndrome is named after the two doctors who first described it, Cuban doctor Beguez Chediak in 1952 and Japanese doctor Otokata Higashi in 1954.

==Symptoms==
The symptoms of Chediak-Higashi Syndrome can vary greatly among individuals. They may include [[albinism]], [[neurological disorder|neurological disorders]], [[immune deficiency]], and a predisposition to [[infection]]s. 

==Causes==
Chediak-Higashi Syndrome is caused by mutations in the [[LYST gene]], which is involved in the regulation of [[lysosome]]s. These mutations lead to the formation of abnormally large lysosomes, which impair the function of certain immune cells.

==Diagnosis==
Diagnosis of Chediak-Higashi Syndrome is typically based on the presence of characteristic clinical findings, specialized laboratory tests, and confirmed by molecular genetic testing.

==Treatment==
Treatment for Chediak-Higashi Syndrome is typically focused on managing the symptoms and preventing complications. This may include [[antibiotic]] therapy to treat or prevent 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 milder form of the disorder and live into adulthood, while others with a more severe form may not survive past childhood.

==See Also==
* [[Genetic disorder]]
* [[Immune system]]
* [[LYST gene]]
* [[Lysosome]]
* [[Antibiotic]]
* [[Bone marrow transplant]]

[[Category:Genetic disorders]]
[[Category:Immune system disorders]]
[[Category:Rare diseases]]

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