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Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous

R B Johnston, R J Harbeck, R B Johnston

    The Journal of Pediatrics
    |January 1, 1985
    PubMed

    Insights

    Carrier status for chronic granulomatous disease (CGD) can cause severe infections. This study shows that CGD carriers may experience symptoms, suggesting a disease spectrum rather than a benign state.

    Area of Science:

    • Immunology
    • Genetics
    • Pediatrics

    Background:

    • Chronic granulomatous disease (CGD) is an inherited disorder affecting phagocyte function.
    • X-linked CGD is the most common form, caused by mutations in the CYBB gene.
    • Carrier status in X-linked CGD typically implies a low risk of symptoms.

    Observation:

    • A female carrier of X-linked CGD presented with recurrent severe purulent infections.
    • Her blood revealed a mosaic of normal and CGD-affected granulocytes, with varying percentages over time.
    • Her granulocytes exhibited partial defects in bacterial killing and superoxide anion production.

    Findings:

    • The carrier's immune system and phagocyte function showed no other abnormalities.
    • The clinical presentation and cellular defects suggest a significant manifestation of the CGD carrier state.
    • The percentage of normal granulocytes fluctuated between 4% and 44% over a 4-year period.

    Implications:

    • The carrier state for X-linked CGD should not be considered benign.
    • CGD expression may exist on a continuum, encompassing carrier states.
    • Diagnostic screening assays for CGD must be capable of identifying carriers of the X-linked form.

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