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Chronic granulomatous disease in two Chinese families
1Department of Pediatrics, College of Medicine, National Taiwan University Hospital, Taipei, Republic of China.
Insights
Two Chinese families with X-linked chronic granulomatous disease (CGD) were studied. Carrier mothers were identified through neutrophil function tests, despite remaining asymptomatic.
Area of Science:
- Immunology
- Genetics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired neutrophil function.
- X-linked CGD is the most common form, affecting males and inherited through carrier mothers.
Observation:
- Two unrelated Chinese families presented with X-linked CGD in young male infants suffering from recurrent Staphylococcus and Candida infections.
- Neutrophil chemotaxis and phagocytosis were normal in patients and family members.
- Nitroblue tetrazolium (NBT) tests, both slide and spectrophotometric, were abnormal in patients, unresponsive to various treatments.
Findings:
- Carrier status in mothers was confirmed by the presence of both normal and CGD phagocytes in the slide NBT test.
- Maternal carrier status correlated with variable NBT test results, with one mother showing fluctuating NBT values and the other a nearly normal slide NBT test despite carrying affected offspring.
- Both carrier mothers were clinically healthy and asymptomatic.
Implications:
- This study highlights the importance of neutrophil function testing, particularly the NBT test, in diagnosing X-linked CGD and identifying asymptomatic carriers.
- Understanding carrier variability is crucial for genetic counseling and family planning in affected lineages.
- Early diagnosis and carrier identification enable timely management and potentially reduce the burden of recurrent infections in CGD patients.
Abstract:
Two Chinese families with X-linked chronic granulomatous disease (CGD) are reported. The first case was an 11-month-old male baby and the second a 2-month-old male baby. Both patients presented with persistent infections caused by Staphylococcus and Candida since birth. Neutrophil functions were studied in patients and a number of family members. Chemotaxis and phagocytosis were normal in every subject. Slide and spectrophotometric nitroblue tetrazolium (NBT) tests of both patients were abnormal and remained unchanged in spite of treatment with ascorbic acid, levamisole, sulfamethoxazole, trimethoprim and isoniazide. Mothers were proved to be carriers as evidenced by the presence of both normal and CGD phagocytes in the slide NBT test. During the 2-month follow-up period, the percentage of normal phagocytes from the mother of case 1 varied from 12% to 73%, which correlated with the fluctuation of spectrophotometric NBT value. The slide NBT test of the mother of case 2 was nearly normal in face of the presence of CGD phagocytes. Both carrier mothers were healthy and asymptomatic.