A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.
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.
Jirapongsananuruk
Orathai
O
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Noack
Deborah
D
Boonchoo
Siribangon
S
Thepthai
Charin
C
Chokephaibulkit
Kulkanya
K
Visitsunthorn
Nualanong
N
Vichyanond
Pakit
P
Luangwedchakarn
Voravich
V
Likasitwattanakul
Surachai
S
Piboonpocanun
Surapon
S
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
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases