Chronic Granulomatous Disease: A Rare Primary Immunodeficiency Disorder in Pakistan due to Under-diagnosis or Under-prevalence?

As per a study by Khan et al., in 2016, 1 in every 250,000 individuals is affected by Chronic Granulomatous Disease (CGD), an inherited primary immunodeficiency disorder [1]. Absence of NADPH oxidase in the phagocytes leads to chronic or recurring acute bacterial and fungal infections [2]. Due to higher rates of consanguinity in Pakistan, the prevalence of an autosomal recessive disorder like CGD is expected to be much higher than reported. However, limited available data makes it hard to tell whether this difference is significant enough to be attributed to underdiagnosis, or if CGD does in fact have a low prevalence in Pakistan.