X-linked CGD is associated with CYBB genetic mutations1

X-linked CGD is an inherited disorder caused by a mutation in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex, which is part of neutrophils and the mechanism to kill pathogens.1

Diagram showing the inheritance pattern of X-linked Chronic Granulomatous Disease (CGD), where a father with normal chromosomes and a mother carrying one mutated X chromosome can have children with four possible genetic outcomes: unaffected girl, unaffected boy, carrier girl, or affected boy Diagram showing the inheritance pattern of X-linked Chronic Granulomatous Disease (CGD), where a father with normal chromosomes and a mother carrying one mutated X chromosome can have children with four possible genetic outcomes: unaffected girl, unaffected boy, carrier girl, or affected boy Diagram showing the inheritance pattern of X-linked Chronic Granulomatous Disease (CGD), where a father with normal chromosomes and a mother carrying one mutated X chromosome can have children with four possible genetic outcomes: unaffected girl, unaffected boy, carrier girl, or affected boy

The dihydrorhodamine (DHR) test can help distinguish X-linked CGD and evaluate the risk of infection in X-linked carriers. See why it is the most common test for diagnosing CGD.

Understanding the risk for X-linked patients

X-linked CGD accounts for approximately 65% of CGD cases.2 X-linked CGD often presents early in life with most cases diagnosed by age 5.1

X-linked carriers may be at risk of infections
Infographic showing that 10 out of 14 X-linked CGD carriers who experienced severe infections had at least 1 case of pneumonia caused by a CGD-associated pathogen. Infographic showing that 10 out of 14 X-linked CGD carriers who experienced severe infections had at least 1 case of pneumonia caused by a CGD-associated pathogen. Infographic showing that 10 out of 14 X-linked CGD carriers who experienced severe infections had at least 1 case of pneumonia caused by a CGD-associated pathogen.
Infographic showing that 48% of all X-linked CGD carriers reported infections, autoimmune symptoms, or both. Infographic showing that 48% of all X-linked CGD carriers reported infections, autoimmune symptoms, or both. Infographic showing that 48% of all X-linked CGD carriers reported infections, autoimmune symptoms, or both.

For more information on identifying, testing, and monitoring carriers of X-linked CGD, please review this brochure.

X-linked carriers may show signs and symptoms of CGD
Case of a Carrier of X-Linked CGD with CGD-Related Symptoms video thumbnail

Based on a 2018 study analyzing 93 X-linked carriers of CGD.3

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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; 1993-2022. 2. 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. 3. 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.