66 Chediak-Higashi Syndrome

Michelle To and Valentin Villatoro

PBS Key Features:1,2

Leukocytes contain abnormally large lysosomal granules in the cytoplasm. Granules represent the aggregation of primary granules combined with the fusion of secondary granules.



Mutation in the CHS1/LYST gene which encodes for a vesicle transport protein.


Inheritance Pattern:3-5

Autosomal recessive


Clinical Significance:1,3-5

Development of lysosomes are abnormal resulting in the fusion of granules. The syndrome results in impaired chemotaxis, defective degranulation, and defective killing of bacteria. Granulocytes, Platelets,  Monocytes, and lymphocytes are dysfunctional.


Patients often present with oculocutaneous albinism,  recurrent bacterial infections and bleeding tendencies. Complications develop during early childhood.







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2. Bain BJ. Morphology of blood cells. In: Blood cells: a practical guide [Internet]. 5th ed. Chichester, UK: John Wiley & Sons, Ltd; 2015 [cited 2018 Jul 10]: 67-185. Available from: http://doi.wiley.com/10.1002/9781118817322

3. Marionneaux S. Nonmalignant leukocyte disorders. In: Rodak’s hematology clinical applications and principles. 5th ed. St. Louis, Missouri: Saunders; 2015. p. 475-97.

4. Turgeon ML. Nonmalignant Disorders of Granulocytes and monocytes. In: Clinical hematology: theory and procedures. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 1999. p. 206-16.

5. Landis-Piwowar K. Nonmalignant disorders of leukocytes: granulocytes and monocytes. In: Clinical laboratory hematology. 3rd ed. New Jersey: Pearson; 2015. p. 388-407.


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