p22phox 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-negative

CGD due to deficiency of the alpha subunit of cytochrome-b

CYBA deficiency cytochrome b(-245), alpha polypeptide

Classification

  • Defects of phagocyte function
    • Chronic granulomatous disease

Inheritance

Autosomal recessive

OMIM

#233690 Granulomatous disease, chronic, autosomal cytochrome-b-negative form

*608508 Cytochrome b(-245), alpha subunit; CYBA

Incidence

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