Chediak-Higashi syndrome

Chediak-Higashi Syndrome (CHS) is a rare disorder of all lysosomal granule-containing cells. There is an abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. The protein is involved in the vacuolar formation and transport of proteins. There is an uncontrolled granule fusion leading to defective granules in neutrophils, which fail in chemotaxis.

Alternative names


Begnez-Cesar's Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Leukocytic Anomaly Albinism

Natural Killer Lymphocytes

Defect in Oculocutaneous Albinism, Chediak-Higashi Type


  • Defects of phagocyte function


Autosomal recessive


#214500 Chediak-Higashi syndrome; CHS

*606897 Lysosomal trafficking regulator, LYST

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Griscelli syndrome


Incidence is not known.