Chronic Granulomatous Disease (CGD) is associated with a number of possible genetic mutations.

Cell function compromised in CGFD: phagocyte NADPH oxidase


Autosomal recessive inheritance:

(1) CYBA (16q24.2): cytochrome b-245 light chain

(2) CYBC1 (17q25.3): cytochrome b-245 chaperone 1

(3) NCF1 (7q11.23): neutrophil cytosol factor 1

(4) NCF2 (1q25.1): neutrophil cytosol factor 2

(5) NCF4 (22.q12.3): neutrophil cytosol factor 4


X-linked inheritance:

(1) CYBB (Xp12.1-p11.4): cytochrome b-245 heavy chain

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