Muhammad Hussain, Hamid Nawaz Tipu, Dawood Ahmad, Mustajab Alam, Yumna Ijaz, Ehsan Qadir.
Chronic Granulomatous Disease; Experience of a Rare Primary Immunodeficiency from a Tertiary Care Center in Pakistan.
Pak Armed Forces Med J Jan ;74(1):8-11.

Objective: To determine the clinical parameters, consanguinity of parents, previous family history of primary immunodeficiency (PID) and Neutrophil oxidative index (NOI) of Dihydrorhodamine (DHR) assay in chronic granulomatous disease (CGD). Study Design: Cross-sectional study. Place and Duration of Study: Immunology Department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from Jan 2015 to Dec 2020. Methodology: A total of 18 patients with chronic granulomatous disease were diagnosed over six years by Dihydrorhodamine assay on flow cytometry, in our institute. Results: The mean age of patients at the time of symptoms was 4.0±3.01 months, while diagnosis was made at the mean age of 42.02±46.00 months. In 6 years, 13(72%) males and 5(28%) females were diagnosed with chronic granulomatous disease by DHR assay on flow cytometry. Parents of fifteen patients (83%) had consanguineous marriages, and 8(44%) patients had positive family history of PIDs. DHR assay showed two mothers had carrier states. The commonest clinical presentation noted was recurrent respiratory tract infections in 16 (89%) patients, repeated abscesses were seen in 13 (72%) and 5(28%) patients had a history of tuberculosis. Conclusion: Chronic granulomatous disease should be suspected in patients with repeated chest infections (especially with catalase-positive organisms), abscesses, diarrhoea and death of siblings at an early age with undiagnosed PID.

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