Preliminary study on chronic granulomatous disease in Sri Lanka

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Shalinda Jude Arjuna FernandoNilhan Rajiva de Silva

Abstract

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of the phagocytic cells, which results in absent or diminished levels of microbicidal reactive oxygen species. The disease occurs due to germline mutations in the genes encoding the five subunits of NADPH oxidase complex. The present study is a pilot study to understand the clinical and genetic aspects of CGD in Sri Lanka. Clinical records of thirteen CGD patients were analysed and compared with similar studies performed in different countries and regions to identify patterns in demographics, clinical manifestations and infectious agents. Genomic DNA and cDNA were analysed in eight patients to identify mutations in CYBB and NCF1 genes, thereby to ascertain the potential X-linked and autosomal recessive (AR) CGD patients. The onset of symptoms in the patient cohort was very early (mean 4.6 months) compared to 20 months in India and 23.9 months in Latin America. Similarly, the age at diagnosis was lower (mean 1.6 years after birth) compared to other studies; 4.5 years in India and 6.1 years in Europe. Pulmonary manifestations were the most common (85%), followed by skin/subcutaneous infections (77%) and lymphadenopathy (62%). The death rate of local patients (...Continue Reading

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Citations

Jan 23, 2020·Immunological Investigations·Mohamed A El-MokhtarMona Embarek Mohamed
Aug 18, 2020·Pediatric Health, Medicine and Therapeutics·Benjamin T PrinceSteven M Holland
Nov 21, 2020·Journal of Clinical Immunology·Dharmagat BhattaraiAmit Rawat
Jun 28, 2021·Blood Cells, Molecules & Diseases·Dirk RoosDouglas B Kuhns

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Methods Mentioned

BETA
X ray
biopsy
biopsies
X-ray
PCR
flow cytometry

Software Mentioned

ESID

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