69 Chronic Granulomatous Disease

Michelle To and Valentin Villatoro


Leukoctye morphology is normal.



Mutations in the NADPH oxidase subunit genes.


Inheritance Pattern:2-4

Autosomal recessive, X-linked recessive


Clinical Significance:2-4

Antmicrobial activity defect where neutrophils and monocytes are unable to kill catalase positive organisms after ingestion. The respiratory burst is not activated and cells are unable to produce reactive oxygen species and superoxide. Disease results in recurrent and life-threatening bacterial and fungal infections in the first year of life.


Infections occur often in the lung, skin, lymph nodes, and liver. Granuloma formation can be found in various organs and cause obstruction.


Additional Tests:1 

Nitroblue Tetrazolium Test (NBT)

Flow Cytometry


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

2. Harmening DM, Marty J, Strauss RG. Cell biology, disorders of neutrophils, infectious mononucleosis, and reactive lymphocytosis. In: Clinical hematology and fundamentals of hemostasis. 5th ed. Philadelphia: F.A. Davis Company; 2009. p. 305-30.

3. 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.

4. 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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