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

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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.

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Article · May 2024 · 1 min read

In brief

This article examines the reported prevalence of Chronic Granulomatous Disease (CGD) in Pakistan, questioning whether low case numbers reflect true rarity or systematic underdiagnosis. Given Pakistan's high consanguinity rates, the authors explore the gap between expected and documented CGD cases in a population where autosomal recessive disorders should be more common.

CGD affects 1 in 250,000 individuals globally; caused by absent NADPH oxidase in phagocytes leading to recurrent infections.
High consanguinity rates in Pakistan suggest autosomal recessive CGD should be more prevalent than currently reported.
Limited data prevents determining if low CGD prevalence in Pakistan reflects true epidemiology or underdiagnosis.
Clinicians should maintain high index of suspicion for CGD in patients with recurrent bacterial/fungal infections.
Improved diagnostic capacity and registry systems needed to establish true CGD burden in high-consanguinity populations.

Written by the GCMD Library team from the article.

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