Methods: Through the 123 Dihydrorodamine assay in blood samples of the female relatives of CGD patients we identified a positive bimodal pattern in each woman. A positive bimodal pattern reveled two points, first, that the pattern of transmission in the patients was X-linked, second, that the woman was a carrier.
Results: We analyzed 59 female relatives of 18 male CGD patients. Among 14 CGD males we found 28 women whit a positive bimodal pattern; in four male CGD patients we did not find any relative with a positive bimodal pattern.
Conclusions: 123 DHR assay is an accessible and quickly technique to determinate the pattern of transmission and the carriers in X-CGD. However a negative finding of a bimodal pattern in the female relatives suggests an autosomal recessive pattern but it does not rule out a X-CDD because of a novo mutation or non-random (skewed) X-chromosome inactivation. Definitive diagnosis is based on candidate gene sequencing.