Chronic granulomatous disease
Chronic granulomatous disease (CGD, Bridges–Good syndrome, chronic granulomatous disorder, Quie syndrome) occurs when phagocytes are unable to produce bactericidal superoxide anions (O2-). This genetically mediated problem with multiple genotypes and phenotypes leads to recurrent life-threatening bacterial and fungal infections. The genes associated are:
- CYBB at Xp21.1 coding for the cytochrome b beta subunit (p91-phox).
- NCF1 at 7q11.23 coding for neutrophil cytosol factor 1(p47-phox, phagocyte oxidase)
- NCF2 at 1q25 coding for neutrophil cytosol factor 2 (p67-phox)
- CYBA at 16q24 coding for the cytochrome b alpha subunit(p22-phox)
- NOD2 (CARD15) at 16q12 causing Blau syndome (Jab's syndrome)