p47phox deficiency

Autosomal recessive chronic granulomatous disease (AR-CGD) is characterized by a defect of intracellular bacterial killing in neutrophils and monocytes, due to a failure of superoxide, oxygen radical, and peroxide production. Organisms that are catalase negative are killed normally, whereas catalase-positive organisms (Staphylococcus aureus, Aspergillus, Nocardia, and Serratia) cause major problems.

Alternative names

CGD, autosomal cytochrome-b-positive, type I

Chronic granulomatous disease due to NCF1 deficiency

Deficiency of neutrophil cytosol factor 1

Deficiency of NCF1

Deficiency of soluble oxidase component II

Deficiency of SOC2

p47-phox, deficiency of neutrophil cytosolic factor 1

Classification

  • Defects of phagocyte function
    • Chronic granulomatous disease

Inheritance

Autosomal recessive

OMIM

#233700 Granulomatous disease, chronic, autosomal cytochrome-b-positive form I

*608512 Neutrphil cytosolic factor 1; NCF1

Incidence

1: 200,000-250,000 live births in USA. Internationally 1:500,000.