CGD is an inherited disorder caused by gene mutations in the phagocyte of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.1 There are 2 major types of CGD: X-linked and autosomal recessive.1,2
Understanding the risk for X-linked patients
X-linked CGD accounts for approximately 65% of CGD cases.3 About 10%-15% of X-linked mutations are the result of new random mutations.2 X-linked CGD presents early in life with most cases diagnosed by age 5 years.1
X-linked carriers may show signs and symptoms of CGD
X-linked CGD carriers may be at risk for serious infection.* A 2018 study found that 48% of X-linked carriers reported infections, autoimmune symptoms, or both.4 New research has identified that up to 23% of carriers are at risk for significant infection.5
Hiding on the X: Rethinking Perceptions of Carriers of X-Linked CGD
Watch the 2022 Clinical Immunology Society (CIS) Dinner Symposium presentation to learn more about identifying, testing, and managing X-linked CGD.
Autosomal recessive CGD may be difficult to diagnose
Approximately 35% of CGD cases are inherited in an autosomal recessive manner.3 Autosomal recessive CGD includes 4 different forms of genetic defects. This spectrum explains heterogeneity of disease severity among patients.1,3,6
Symptoms usually appear later in childhood, which can delay diagnosis.1 Serious infections* in patients with autosomal recessive CGD may be less frequent.1
*Serious infection is defined as a clinical event requiring hospitalization and intravenous antibiotics.
1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2018. 2. Rider NL, Jameson MB, Creech CB. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018;7(suppl 1):S2-S5. doi:10.1093/jpids/piy008 3. Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001;97(1):305-311. doi:10.1182/blood.v97.1.305 4. 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.doi:10.1093/cid/ciu1154 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. doi:10.1016/j.jaci.2017.02.029 6. 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. doi:10.1056/NEJMoa1007097