Abstract
We report a 28-year-old woman patient suffering from refractory subcutaneous abscess. Stimuli-induced microbicidal reactive oxygen metabolites formation test of the patient's neutrophils revealed that only 9.6% of the neutrophils produced H2O2. DNA analysis of the CYBB that encodes gp91(phox) demonstrated that she was heterozygous for a nonsense mutation, 206Trp(TGG)/stop(TGA) and therefore, a diagnosis of adult onset X-linked chronic granulomatous disease was made. Our molecular biological study revealed that her disease was caused by a de novo mutation in the CYBB gene on the paternal-origin X-chromosome and a skewed inactivation of the normal maternal X-chromosome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence
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Base Sequence
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Codon, Nonsense*
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Codon, Terminator / genetics
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DNA / genetics
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Female
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Genes, X-Linked*
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / metabolism
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Granulomatous Disease, Chronic / diagnosis
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Granulomatous Disease, Chronic / genetics*
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Granulomatous Disease, Chronic / metabolism
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Heterozygote
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Humans
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Hydrogen Peroxide / metabolism
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Male
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Membrane Glycoproteins / genetics*
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NADPH Oxidase 2
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NADPH Oxidases / genetics*
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Neutrophils / metabolism
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X Chromosome Inactivation
Substances
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Codon, Nonsense
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Codon, Terminator
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Membrane Glycoproteins
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DNA
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Hydrogen Peroxide
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CYBB protein, human
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NADPH Oxidase 2
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NADPH Oxidases