title: Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India.
abstract: Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57%) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.
authors.affiliation: Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Amit
authors.initials: A
authors.lastname: Rawat
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
authors.forename: Deepti
authors.initials: D
authors.lastname: Suri
authors.forename: Anju
authors.initials: A
authors.lastname: Gupta
authors.forename: Biman
authors.initials: B
authors.lastname: Saikia
authors.forename: Ranjana Walker
authors.initials: RW
authors.lastname: Minz
authors.forename: Shobha
authors.initials: S
authors.lastname: Sehgal
authors.forename: Kim
authors.initials: K
authors.lastname: Vaiphei
authors.forename: C
authors.initials: C
authors.lastname: Kamae
authors.forename: K
authors.initials: K
authors.lastname: Honma
authors.forename: N
authors.initials: N
authors.lastname: Nakagawa
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: S
authors.initials: S
authors.lastname: Nonoyama
authors.forename: K
authors.initials: K
authors.lastname: Oshima
authors.forename: N
authors.initials: N
authors.lastname: Mitsuiki
authors.forename: O
authors.initials: O
authors.lastname: Ohara
authors.forename: Koon-Wing
authors.initials: KW
authors.lastname: Chan
authors.forename: Yu Lung
authors.initials: YL
authors.lastname: Lau
mesh_terms: D017668:Age of Onset; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D017052:Hospital Mortality; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000209:etiology / Q000382:microbiology; D008297:Male; D009154:Mutation; D011379:Prognosis; D062606:Tertiary Care Centers