p67phox deficiency

Neutrophil cytosolic factor 2 (NCF2) is absent in 5% of patients with autosomal recessive chronic granulomatous disease (AR-CGD). The disease 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 II

Chronic granulomatous disease, due to NCF2 deficiency

Deficiency of neutrophil cytosol factor 2

Deficiency of NCF2

P67-phox, deficiency of neutrophil cytosolic factor 2

Classification

  • Defects of phagocyte function
    • Chronic granulomatous disease

Inheritance

Autosomal recessive

OMIM

#233710 Granulomatous disease, chronic, autosomal cytochrome-b-positive form II

*608515 Neutrophil cytosolic factor 2; NCF2

Incidence

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