A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report

Chronic granulomatous disease (CGD) is caused by gene mutations that affect the phagocyte NADPH oxidase. This results in recurrent infections by catalase-positive bacteria or fungi. Here, we report a case of X-linked CGD presenting a mixed infection with Burkholderia cepacia and Aspergillus. A novel...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Xuehua, Lu, Bingtai, Xie, Yaping, Yang, Diyuan, Lu, Gen, Fan, Huifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490557/
https://www.ncbi.nlm.nih.gov/pubmed/32963958
http://dx.doi.org/10.1016/j.rmcr.2020.101213
_version_ 1783582059182161920
author Xu, Xuehua
Lu, Bingtai
Xie, Yaping
Yang, Diyuan
Lu, Gen
Fan, Huifeng
author_facet Xu, Xuehua
Lu, Bingtai
Xie, Yaping
Yang, Diyuan
Lu, Gen
Fan, Huifeng
author_sort Xu, Xuehua
collection PubMed
description Chronic granulomatous disease (CGD) is caused by gene mutations that affect the phagocyte NADPH oxidase. This results in recurrent infections by catalase-positive bacteria or fungi. Here, we report a case of X-linked CGD presenting a mixed infection with Burkholderia cepacia and Aspergillus. A novel mutation was found by bioinformatics analyses of his genealogy (c.1234delG), which perhaps changed the structure and function of the related proteins.
format Online
Article
Text
id pubmed-7490557
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-74905572020-09-21 A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report Xu, Xuehua Lu, Bingtai Xie, Yaping Yang, Diyuan Lu, Gen Fan, Huifeng Respir Med Case Rep Case Report Chronic granulomatous disease (CGD) is caused by gene mutations that affect the phagocyte NADPH oxidase. This results in recurrent infections by catalase-positive bacteria or fungi. Here, we report a case of X-linked CGD presenting a mixed infection with Burkholderia cepacia and Aspergillus. A novel mutation was found by bioinformatics analyses of his genealogy (c.1234delG), which perhaps changed the structure and function of the related proteins. Elsevier 2020-09-02 /pmc/articles/PMC7490557/ /pubmed/32963958 http://dx.doi.org/10.1016/j.rmcr.2020.101213 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Xu, Xuehua
Lu, Bingtai
Xie, Yaping
Yang, Diyuan
Lu, Gen
Fan, Huifeng
A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title_full A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title_fullStr A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title_full_unstemmed A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title_short A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
title_sort novel mutation in cybb induced x-linked chronic granulomatous disease: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490557/
https://www.ncbi.nlm.nih.gov/pubmed/32963958
http://dx.doi.org/10.1016/j.rmcr.2020.101213
work_keys_str_mv AT xuxuehua anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT lubingtai anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT xieyaping anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT yangdiyuan anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT lugen anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT fanhuifeng anovelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT xuxuehua novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT lubingtai novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT xieyaping novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT yangdiyuan novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT lugen novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport
AT fanhuifeng novelmutationincybbinducedxlinkedchronicgranulomatousdiseaseacasereport

Ejemplares similares