138 Transmission Pattern and Carriers Identification in Male Patients with Chronic Granulomatous Disease

BACKGROUND: To identify the pattern of transmission in male CGD patients and the CGD X-linked carriers among their female relatives. 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 2 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 4 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 an X-CDD because of a novo mutation or non-random (skewed) X-chromosome inactivation. Definitive diagnosis is based on candidate gene sequencing.