Case Study for Chapter

Chronic Granulomatous Disease of Childhood

An 18-month-old boy, with a high fever and cough and with a history of frequent infections, was brought to the emergency department by his father. A blood examination shows elevated numbers of neutrophils, but no other defects. A blood culture for bacteria is positive. The physician sent a sample of the boy's blood to a laboratory to test the ability of the patient's neutrophils to produce hydrogen peroxide. The ability of this patient's neutrophils to generate hydrogen peroxide is found to be completely absent.


1. What cellular defect may have led to the complete absence of hydrogen peroxide generation in this patient's neutrophils?

2. How might this disease be treated using hematotherapy?

Answers to Case Study Questions for Chapter 11

1. The disease, chronic granulomatous disease of childhood, results from a congenital lack of the superoxide-forming enzyme NADPH oxidase in this patient's neutrophils. The lack of this enzyme results in deficient hydrogen peroxide generation by these cells when they ingest or phagocytose bacteria, resulting in a compromised capacity to combat recurrent, life-threatening bacterial infections.

2. Normal neutrophil stem cells grown in culture may be infused to supplement the patient's own defective neutrophils. In addition, researchers are now trying to genetically reverse the defect in cultures of a patient's stem cells for subsequent therapeutic infusion.


Baehner RL. Chronic granulomatous disease of childhood:

Clinical, pathological, biochemical, molecular, and genetic aspects of the disease. Pediatr Pathol 1990;10:143-153.

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Essentials of Human Physiology

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