Please enter an email address
This website will not save the email address. It will only be used to send the requested document.
This website will not save the email address. It will only be used to send the requested document.
You are about to go to a website sponsored by Amgen. Would you like to continue?
You will be going to an external website operated by an independent third party. Your activities at the external website will be managed by their policies and practices. By clicking “Continue,” you will go to the external website.
Autosomal recessive CGD is an inherited disorder caused by gene mutations in the neutrophils of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.1
Approximately 35% of CGD cases are inherited in an autosomal recessive manner.2
Autosomal recessive CGD often presents differently than X-linked CGD, which can lead to a delay in recognition and diagnosis.1 Serious infections* in patients with autosomal recessive CGD may be less frequent.1
It is important to consider evaluation for autosomal recessive CGD in older patients exhibiting symptoms such as recurrent fevers or abscesses. Genetic testing may prove beneficial in facilitating the diagnosis of this condition.3
In cases where both parents are heterozygous carriers of an autosomal recessive CGD mutation, the probable genetic outcomes for each sibling of an affected individual are as follows1:
Prenatal and genetic diagnostic options may be possible upon identifying the specific pathogenic variant(s) within an affected family member. Additionally, alternative prenatal testing methodologies may be considered in scenarios where the familial pathogenic variant(s) remain unidentified.1
*Serious infection is defined as a clinical event requiring hospitalization and/or 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; 1993-2022. 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. Yu JE, Azar AE, Chong HJ, Jongco AM III, Prince BT. Considerations in the diagnosis of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018;7(suppl 1):S6-S11.