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TL;DR
This retrospective cohort study of 173 Egyptian children with Chronic Granulomatous Disease (CGD) over 10 years found autosomal recessive forms were predominant (76.3%) and reported a 31.4% mortality rate among those with known outcomes.
Journal of Clinical Immunology · 12 authors, 2 centres
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This retrospective cohort study of 173 Egyptian children with Chronic Granulomatous Disease (CGD) over 10 years found autosomal recessive forms were predominant (76.3%) and reported a 31.4% mortality rate among those with known outcomes.
Autosomal recessive CGD was predominant (76.3%), primarily due to high consanguinity (81.5%). The median age at presentation was 7 months and at diagnosis was 48 months. The most common clinical manifestations were deep-seated abscesses and pneumonia, with Gram-negative bacteria and *Aspergillus* as frequent isolates. Among patients with known outcomes, 31.4% died, most commonly from pneumonia. Patients with p47phox defect had the highest overall survival and oldest age at presentation, while p22phox and gp91phox defects were associated with earlier presentation and higher gastrointestinal and mycobacterial infection rates. Limitations include a retrospective design, loss of follow-up for 20.8% of patients, and inability to categorize some cases. The study highlights the predominance of AR-CGD in Egypt and the need for early diagnosis and management.