Definition

Chediak-Higashi syndrome (CHS) is a very rare disease that affects almost every organ in the body. It is an autosomal recessive disease that results from an abnormality in lysosomes (a sac-like container of enzymes) that travel within cells. The problems that occur with this disease are quite varied and present in two stages.

Description

Chediak-Higashi syndrome was named for the two scientists who, in 1957, further detailed the disorder first described by a Cuban doctor in 1943. The disease progresses through two different stages: the "stable phase" and the "accelerated phase." This rare disease has both classic external signs and distinct cellular problems that always result in a fatal outcome.

Affected individuals have many kinds of immune system problems, making them...