Abstract
We present a retrospective epidemiologic population-based study detailing the incidence rate, point prevalence, clinical history, laboratory findings, and inheritance pattern of patients with chronic granulomatous disease (CGD) in Eastern Province of Saudi Arabia. The incidence rate of CGD is 5.2 cases per 100,000 person-year in our population, which is the highest reported in the literature and is exclusively the autosomal recessive inherited form, rather than the X-linked inherited form. The 11 patients in five families in our study are from consanguineous marriages. The point prevalence of CGD in our population at the end of this study is 6.4 per 100,000. Genotyping studies on six of these patients demonstrate that only two are homozygous for NCF1 c.75_76delGT mutation while the remaining four patients are heterozygous for NCF1 c.75_76delGT mutation. Screening for mutations in CYBB, CYBA, and NCF2 genes are negative.
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