A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease
Journal
Annals of Allergy, Asthma and Immunology
Journal Volume
105
Journal Issue
2
Pages
183-185
Date Issued
2010
Author(s)
SDGs
Other Subjects
ceftriaxone; glycoprotein; protein CYBA; reduced nicotinamide adenine dinucleotide phosphate oxidase 2; unclassified drug; CYBA protein, human; dihydrorhodamine 123; reduced nicotinamide adenine dinucleotide phosphate oxidase; rhodamine; abdominal pain; autosomal recessive disorder; case report; cellulitis; cervical lymphadenopathy; chemoluminescence; child; chronic granulomatous disease; diagnostic test; diarrhea; DNA determination; enterocolitis; female; flow cytometry; gene mutation; heterozygosity; human; immunohistochemistry; letter; lung tuberculosis; nitroblue tetrazolium test; osteomyelitis; polymerase chain reaction; priority journal; reverse transcription polymerase chain reaction; salmonellosis; school child; septic shock; X chromosome linkage; chromosome 16; chromosome disorder; comparative study; diagnostic use; genetics; Granulomatous Disease, Chronic; heterozygote; immunology; mutation; nucleotide sequence; pathophysiology; pedigree; recessive gene; reproducibility; sensitivity and specificity; Child; Chromosome Disorders; Chromosomes, Human, Pair 16; DNA Mutational Analysis; Female; Genes, Recessive; Granulomatous Disease, Chronic; Heterozygote; Humans; Mutation; NADPH Oxidase; Pedigree; Reproducibility of Results; Rhodamines; Sensitivity and Specificity; Child; Chromosome Disorders; Chromosomes, Human, Pair 16; DNA Mutational Analysis; Female; Genes, Recessive; Granulomatous Disease, Chronic; Heterozygote; Humans; Mutation; NADPH Oxidase; Pedigree; Reproducibility of Results; Rhodamines; Sensitivity and Specificity
Type
letter