Autosomal recessive CGD is associated with CYBA, CYBC1, NCF1, NCF2, and NCF4 genetic mutations1
Autosomal recessive CGD is an inherited disorder caused by gene mutations in the neutrophils of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.1
Autosomal recessive CGD may be difficult to diagnose
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
See how autosomal recessive CGD may present in patients
See how autosomal recessive CGD may present in patients
Autosomal recessive CGD genetic counseling
In cases where both parents are heterozygous carriers of an autosomal recessive CGD, the probable genetic outcomes for each sibling of an affected individual are as follows1:
- 25% chance of being phenotypically affected
- 50% chance of being an autosomal recessive carrier
- 25% chance of not inheriting any pathogenic variant associated with CGD
Prenatal and genetic diagnostics 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
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*Serious infection is defined as a clinical event requiring hospitalization and/or intravenous antibiotics.
References:
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.