Cargando…

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

Ejemplares similares

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients
por: Gul, Irum, et al.
Publicado: (2023)

Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report
por: Zhang, Jie, et al.
Publicado: (2022)

Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB
por: Reis, Bárbara C. S., et al.
Publicado: (2021)

Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
por: Song, Sang-Mi, et al.
Publicado: (2014)

A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis
por: de Albuquerque, Jose Antonio Tavares, et al.
Publicado: (2018)

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China
por: Fan, Huifeng, et al.
Publicado: (2022)

Plasma TNFSF13B and TNFSF14 Function as Inflammatory Indicators of Severe Adenovirus Pneumonia in Pediatric Patients
por: Fan, Huifeng, et al.
Publicado: (2021)

Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature
por: Gavrilova, Tatyana, et al.
Publicado: (2020)

Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease
por: Rajani, Puja Sood, et al.
Publicado: (2019)

Pediatric hyperimmunoglobulin E syndrome: A case series of 4 children in China
por: Fan, Huifeng, et al.
Publicado: (2018)

Validation of a Classification Model Using Complete Blood Count to Predict Severe Human Adenovirus Lower Respiratory Tract Infections in Pediatric Cases
por: Fan, Huifeng, et al.
Publicado: (2022)

Human adenovirus infection induces pulmonary inflammatory damage by triggering noncanonical inflammasomes activation and macrophage pyroptosis
por: Li, Lexi, et al.
Publicado: (2023)

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients
por: Cardamone, Giulia, et al.
Publicado: (2018)

Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers
por: Chiriaco, Maria, et al.
Publicado: (2021)

De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report
por: Zhao, Qianqian, et al.
Publicado: (2022)

Fatal pediatric Stevens–Johnson syndrome/toxic epidermal necrolysis: Three case reports
por: Shi, Tingting, et al.
Publicado: (2020)

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease
por: Labrosse, Roxane, et al.
Publicado: (2017)

Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
por: Tsilifis, Christo, et al.
Publicado: (2023)

Heightened Local T(h)17 Cell Inflammation Is Associated with Severe Community-Acquired Pneumonia in Children under the Age of 1 Year
por: Liu, Ming, et al.
Publicado: (2021)

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease
por: Chiu, Timothy Lok-Hin, et al.
Publicado: (2022)

Hematopoietic stem cell transplantation for CYBB heterozygous mutation resulting in very early onset inflammatory bowel disease in children: a case report
por: Li, Zhiling, et al.
Publicado: (2023)

Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients
por: Oh, Heung-Bum, et al.
Publicado: (2004)

Pneumocystis jirovecii pneumonia in a X-linked chronic granulomatous disease female carrier
por: Kalotychou, Vasiliki, et al.
Publicado: (2021)

Machine learning-based identification of CYBB and FCAR as potential neutrophil extracellular trap-related treatment targets in sepsis
por: You, GuoHua, et al.
Publicado: (2023)

Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
por: Gunderman, Lauren, et al.
Publicado: (2023)

Overlapping infection of Nocardia farcinica and Aspergillus fumigatus in a child with X-linked chronic granulomatous disease: a case report
por: Tian, Xiyan, et al.
Publicado: (2022)

Inflammation-related genes S100s, RNASE3, and CYBB and risk of leukemic transformation in patients with myelodysplastic syndrome with myelofibrosis
por: Hong, Minghua, et al.
Publicado: (2021)

Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease
por: Arai, Takashi, et al.
Publicado: (2012)

Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease
por: Gutierrez, Maria J., et al.
Publicado: (2012)

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis
por: Rebelo, Mafalda, et al.
Publicado: (2019)

Back Pain in a 23-Year-Old Male With X-Linked Chronic Granulomatous Disease
por: Sabo, Michelle C, et al.
Publicado: (2019)

Identification of Cytochrome b‐245, beta‐chain gene mutations, and clinical presentations in Iranian patients with X‐linked chronic granulomatous disease
por: Heydari, Atefeh, et al.
Publicado: (2020)

Mortality risk factors in children with severe influenza virus infection admitted to the pediatric intensive care unit
por: Shi, Tingting, et al.
Publicado: (2019)

Ribosomal RNA-depleted RNA sequencing reveals the pathogenesis of refractory Mycoplasma pneumoniae pneumonia in children
por: Huang, Feng, et al.
Publicado: (2021)

Whole blood circular RNA hsa_circ_0002171 serves as a potential diagnostic biomarker for human adenovirus pneumonia in children
por: Yang, Diyuan, et al.
Publicado: (2022)

Endothelial Function and Oxidative Stress in X-Linked, gp91(phox) Deficiency, Chronic Granulomatous Disease
por: Higashi, Yukihito, et al.
Publicado: (2020)

Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease
por: Scheiermann, Julia, et al.
Publicado: (2023)

A Novel Mutation in Chronic Granulomatous Disease: Treating the Family, Not Just the Patient
por: Lutzkanin, Kristen, et al.
Publicado: (2019)

Identification of potential diagnostic biomarkers for pneumonia caused by adenovirus infection in children by screening serum exosomal microRNAs
por: Huang, Feng, et al.
Publicado: (2019)

Articulation infection in patient with chronic granulomatous disease
por: Wang, Xiu-Wen, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_3guld95ns4cq40v8jtf9si0ovv