NADPH oxidase subunit deficiencies
The data in the above table is from the 1980s and 1990s, which may not fully reflect current distributions based on improved diagnostic tests.
Have questions? Call for answers.
CGD is a disorder that affects phagocyte function and that is caused by mutations in any 1 of 5 subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system.1
CGD is most commonly inherited in an X-linked mode, with the subunit gp91phox of NADPH oxidase being affected; all other CGD-related subunit deficiencies are inherited in an autosomal recessive mode. CGD can also arise from a de novo mutation.1-3 The vast majority of patients with autosomal recessive CGD have p47phox deficiency.1-3
Because of the differences in subunit deficiencies and inheritance of CGD, there is heterogeneity in disease onset and severity.1,3
The data in the above table is from the 1980s and 1990s, which may not fully reflect current distributions based on improved diagnostic tests.
Symptomatic mothers of sons with X-linked CGD should be monitored as potential patients as they may present with signs of CGD and experience a wide range of inflammatory and autoimmune symptoms such as2,5-8:
A 2018 study found that 48%* of X-linked carriers reported infections, autoimmune symptoms, or both.6 As a result, X-linked carriers of CGD may be at risk of serious infection, should be evaluated, routinely tested, and monitored as patients, especially as they age.
*Serious infection is defined as a clinical event requiring hospitalization and intravenous antibiotics.
References: 1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews Washington, Seattle; 1993-2016. 2. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. 3. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 4. Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114(15):3309-3315. 5. Battersby AC, Bruggins H, Pearce MS, et al. Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2017;140(2):628-630.e6. 6. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365-371. 7. Magnani A, Brosselin P, Beauté J, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134(3):655-662.e8. 8. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10-24.
ACTIMMUNE® (Interferon gamma-1b) is indicated:
ACTIMMUNE® (Interferon gamma-1b) is indicated: