title: A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.
abstract: We evaluated a boy who had multiple Salmonella septicemia, Aspergillus pneumonia and brain abscesses. His nitroblue tetrazolium (NBT) test was reportedly abnormal. The dihydrorhodamine (DHR) flow cytometry assay was compatible with typical X-linked chronic granulomatous disease (X-CGD). CYBB analysis revealed a novel complex mutation atggacg --> ttca in exon 12 (base pairs 1532-1538). As a result, 3 amino acids Tyr 511, Gly 512 and Arg 513 were deleted and replaced by 2 amino acids, Phe and Gln. The DHR and mutation analysis of his mother showed normal DHR pattern and no mutations in exon 12 of CYBB gene. In conclusion, any children with multiple Salmonella and Aspergillus infection should be suspected of CGD. NBT test, DHR assay and gene analysis are helpful toolsto confirm the diagnosis e v en i n the case of de novo mutation.
authors.affiliation: Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Orathai
authors.initials: O
authors.lastname: Jirapongsananuruk
authors.forename: Deborah
authors.initials: D
authors.lastname: Noack
authors.forename: Siribangon
authors.initials: S
authors.lastname: Boonchoo
authors.forename: Charin
authors.initials: C
authors.lastname: Thepthai
authors.forename: Kulkanya
authors.initials: K
authors.lastname: Chokephaibulkit
authors.forename: Nualanong
authors.initials: N
authors.lastname: Visitsunthorn
authors.forename: Pakit
authors.initials: P
authors.lastname: Vichyanond
authors.forename: Voravich
authors.initials: V
authors.lastname: Luangwedchakarn
authors.forename: Surachai
authors.initials: S
authors.lastname: Likasitwattanakul
authors.forename: Surapon
authors.initials: S
authors.lastname: Piboonpocanun
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001229:Aspergillosis, Allergic Bronchopulmonary / Q000150:complications / Q000235:genetics / Q000382:microbiology; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics* / Q000382:microbiology; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D011014:Pneumonia / Q000150:complications / Q000235:genetics / Q000382:microbiology; D012480:Salmonella Infections / Q000150:complications / Q000235:genetics / Q000382:microbiology; D018805:Sepsis / Q000150:complications / Q000235:genetics / Q000382:microbiology; D017384:Sequence Deletion
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases