Chédiak–Higashi syndrome[1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein,[2] which leads to a decrease in phagocytosis.

[3] Patients often present with early-onset aggressive periodontitis associated with advanced alveolar bone loss and tooth mobility due to neutropenia and defective neutrophil function.

[5] People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia.

Affected children are susceptible to infection by Gram-positive and gram-negative bacteria and fungi, with Staphylococcus aureus being the most common infectious cause.

The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure.

[citation needed] Mutations in the CHS1 gene (also called LYST) located on the chromosome 1q42-q43 have been found to be connected with Chédiak–Higashi syndrome.

[citation needed] CHS is a disease causing impaired bacteriolysis due to failure of phagolysosome formation.

[citation needed] In addition, secretion of lytic secretory granule by cytotoxic T cells is affected.

[citation needed] The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly.

[11] It is named for the Cuban physician and serologist of Lebanese descent Moisés Chédiak Ahuayda[12] (1903–1993) and the Japanese pediatrician Ototaka Higashi (1883–1981).