Chronic Granulomatous Disease (CYBA-related) (CYBA)

Chronic granulomatous disease (CYBA-related) is an autosomal recessive disorder that has been identified most frequently in Sephardic Jewish individuals from Morocco. 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 normal lifespan. There have been no reported genotype-phenotype correlations.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):