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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
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.
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 who experienced severe infections had at least 1 case of pneumonia caused by a common CGD-associated pathogen.4
48% of all X-linked carriers of CGD reported infections, autoimmune symptoms, or both.4
For more information on identifying, testing, and monitoring carriers of X-linked CGD, please review this brochure.
Based on a 2018 study analyzing 93 X-linked carriers of CGD.4
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. 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.