Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Adult Onset X-Linked Chronic Granulomatous Disease in a Woman Patient Caused by a de novo Mutation in Paternal-Origin CYBB Gene and Skewed Inactivation of Normal Maternal X Chromosome
Takahisa GonoMasahide YazakiKazunaga AgematsuMasayuki MatsudaKozo YasuiMaki YamauraFumio HidakaTomoyuki MizukamiHiroyuki NunoiTakeo KubotaShu-ichi Ikeda
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JOURNALS OPEN ACCESS

2008 Volume 47 Issue 11 Pages 1053-1056

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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 gp91phox 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.

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© 2008 by The Japanese Society of Internal Medicine
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