title: Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families.
abstract: Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c.1099C>T (p.) on the other allele. The mother of this child was a carrier for the IVS13-2A>T mutation. All three cases had colitis, and it was the initial symptom in two patients. One of the patients also developed a lung abscess due to Nocardia cyriacigeorgica.
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Pandiarajan
authors.initials: P
authors.lastname: Vignesh
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. rawatamit@yahoo.com.
authors.forename: Amit
authors.initials: A
authors.lastname: Rawat
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Ankur
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Deepti
authors.initials: D
authors.lastname: Suri
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.
authors.forename: Yu L
authors.initials: YL
authors.lastname: Lau
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.
authors.forename: Koon W
authors.initials: KW
authors.lastname: Chan
authors.affiliation: Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005190:Family; D005808:Genes, Recessive; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*; D009504:Neutrophils / Q000276:immunology / Q000378:metabolism; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
chemical_list: D019255:NADPH Oxidases; C527764:NCF2 protein, human
keywords: Chronic granulomatous disease; autosomal recessive; colitis; dihydrorhodamine 123 assay; mutation; neutrophil cytosolic fraction 2 gene; p67phox protein