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Chronic granulomatous disease in two sisters
Journal of Clinical Immunology
|May 1, 1984
Summary
This study investigates chronic granulomatous disease (CGD) in two sisters, identifying a defect in the activation of the respiratory enzyme in their polymorphonuclear leukocytes (PMN). Findings suggest incomplete Lyonization in X-linked inheritance, highlighting CGD
Area of Science:
- Immunology
- Genetics
- Cell Biology
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired phagocytic cell oxidative burst.
- Diagnosis typically involves functional assays of polymorphonuclear leukocytes (PMN).
Observation:
- Two sisters with CGD presented with histopathological findings and confirmed by reduced PMN chemiluminescence, nitroblue tetrazolium (NBT) reduction, Staphylococcus aureus killing, and O2- production.
- NADPH oxidase activity was undetectable in patient PMN, though cytochrome b was present.
- PMN depolarization response to phorbol-myristate acetate was absent, indicating a defect in the respiratory enzyme activation pathway.
Findings:
- A defect in the activation mechanism of the NADPH oxidase complex was identified in the patients' PMN.
- Normal PMN depolarization with ouabain confirmed intact Na/K pump function.
- Low, but not absent, PMN respiratory activity suggested X-linked inheritance with incomplete Lyonization.
Implications:
- The findings support a defect in the respiratory enzyme activation pathway in CGD.
- Incomplete Lyonization may explain the variable clinical presentation of CGD.
- Understanding the specific defect aids in comprehending CGD heterogeneity and potential therapeutic strategies.