CYBA-related chronic granulomatous disease is a condition causing immunodeficiency, preventing white blood cells from effectively eliminating bacteria and fungi.
Individuals suffer from recurrent infections like pneumonia, lymph node, liver, and skin infections, often leading to swollen, infected nodules (granulomas) in the gastrointestinal or genitourinary tract, along with abscesses, particularly in the liver and skin. Inflammation of the bowel (colitis) is common, potentially hindering normal growth. Chronic lung disease can also develop, with symptoms typically appearing in early childhood, although some individuals might not display symptoms until later in life. Current antibacterial and antifungal medications has improved the survival rate of individuals affected with CYBA-related chronic granulomatous disease; however, some infections may be life-threatening. With treatment, most individuals live into adulthood; however, lifespan may be shortened due to pneumonia or other infections.
This condition is caused by pathogenic (disease-causing) variants in the CYBA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 13 chance to be a carrier.
Another name for this condition is autosomal recessive granulomatous disease.