69 Chronic Granulomatous Disease
Michelle To and Valentin Villatoro
Leukoctye morphology is normal.
Mutations in the NADPH oxidase subunit genes.
Autosomal recessive, X-linked recessive
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.
Nitroblue Tetrazolium Test (NBT)
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