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

A carrier of chronic granulomatous disease (CGD) has had recurrent severe purulent infections like those characteristic of CGD. The carrier state was demonstrated by the presence of both normal and CGD granulocytes in her blood; the percentage of normal granulocytes varied from 4% to 44% over 4 years. In addition, her granulocytes were partially defective in killing Escherichia coli and staphylococci and in the release of superoxide anion during stimulation. Extensive evaluation of her immune system and phagocyte function failed to reveal a second abnormality. The course in this child indicates that the carrier state for X-linked CGD cannot be considered a benign condition and might be more properly conceptualized as a continuum in expression of the full disease. Screening assays for CGD should possess the capacity to diagnose carriers of the X-linked form of the disease.