Autosomal Recessive CGD (NCF-1, NCF-2, CYBA, NCF4)

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency which was originally characterized in the 1950s as a clinical entity affecting male infants and termed “fatal granulomatous disease of childhood”. CGD is characterized by early onset of severe recurrent infections affecting mainly the natural barriers of the organism such as the respiratory tract and lymph nodes, and eventually internal structures such as liver, spleen, bones, and brain. The estimated incidence of this disease is approximately 1/250,000 live births per year. CGD can also present with abnormal inflammatory responses, which often result in the dysregulated granuloma formation in inflamed tissues (Arnold and Heimall 2017).

Phagocytes, such as monocytes/macrophages, contain a membrane-associated nicotinamide adenine dinucleotide phosphate – reduced form (NADPH)-oxidase that produces superoxide and other reactive oxygen intermediates involved in microbicidal, tumoricidal, and inflammatory activities. Defects...