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

X-Linked Chronic Granulomatous Disease Inheritance pattern diagram showing unaffected, carrier, and affected offspring
Autosomal Recessive Chronic Granulomatous Disease Inheritance pattern diagram showing unaffected, carrier, and affected offspring

The dihydrorhodamine (DHR) test can distinguish CGD subtype and carrier status. See the other reasons why it’s the preferred test for diagnosing CGD.

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 5.1

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.

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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 the 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

Learn about identifying, testing, and monitoring X-linked carriers

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*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. 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. 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. 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. 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.