Chronic Granulomatous Disease (CYBB-related) (CYBB)
Chronic granulomatous disease (CYBB-related) is a pan-ethnic disorder caused by pathogenic variants in the gene CYBB. It is inherited in an X-linked manner, and therefore males are affected more often and more severely than females. Chronic granulomatous disease is an immunodeficiency disorder which usually causes growth retardation, granulomas, and recurrent invasive infections (particularly fungal infections). With careful management and medication, patients may have a typical lifespan. There have been no reported genotype-phenotype correlations.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.