Cargando…

Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report

BACKGROUND: Severe congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suff...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vu, Quang Van, Wada, Taizo, Tran, Tham Thi, Ngo, Duc Ngoc, Van Dinh, Thuc, Nguyen, Cuong Hung, Le, Huong Thi Minh, Yachie, Akihiro, Nguyen, Sang Ngoc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335412/ https://www.ncbi.nlm.nih.gov/pubmed/25705433 http://dx.doi.org/10.1186/s12878-015-0020-x

Ejemplares similares

Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
por: Tran, Tham Thi, et al.
Publicado: (2018)

Clinical Epidemiology Characteristics and Etiology of Febrile Neutropenia in Children: Analysis of 421 Cases
por: Nguyen, Sang Ngoc, et al.
Publicado: (2022)

Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia
por: Vu, Quang Van, et al.
Publicado: (2014)

Paediatric autoimmune diseases with ELANE mutations associated with neutropenia
por: Zhang, Dan, et al.
Publicado: (2023)

CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia
por: Tran, Ngoc Tung, et al.
Publicado: (2020)

Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia
por: Ye, Ying, et al.
Publicado: (2011)

Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
por: Shim, Ye Jee, et al.
Publicado: (2011)

Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations
por: Liu, Qiao, et al.
Publicado: (2019)

Severe congenital neutropenia associated with the ELANE gene in Chinese children: case report
por: Gao, Liwei, et al.
Publicado: (2018)

Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia
por: Sabo, Peter, et al.
Publicado: (2022)

Second-Hand Smoking Prevalence in Vietnamese Population Aged 15 and older: A Systematic Review and Meta-Analysis
por: Duc, Tran Quang, et al.
Publicado: (2022)

Quality of Life in Vietnamese Gastric Cancer Patients
por: Ngoc Thi Dang, Dzung, et al.
Publicado: (2019)

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
por: van de Vosse, Esther, et al.
Publicado: (2010)

HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry
por: Rotulo, Gioacchino Andrea, et al.
Publicado: (2020)

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene
por: Komvilaisak, Patcharee, et al.
Publicado: (2023)

Bio-guided isolation of alpha-glucosidase inhibitory compounds from Vietnamese liverwort Marchantia polymorpha: in vitro and in silico studies
por: Nguyen, Ngoc Khanh Van, et al.
Publicado: (2023)

Alcohol and tobacco use among methadone maintenance patients in Vietnamese rural mountainside areas
por: Tran, Bach Xuan, et al.
Publicado: (2017)

Normative data for the Vietnamese smell identification test
por: Tran, Tai Ngoc, et al.
Publicado: (2023)

Mental health among Vietnamese urban late adolescents: The association of parenting styles
por: La, Thu-Thuy Thi, et al.
Publicado: (2020)

The first successful bone marrow transplantation in Vietnam for a young Vietnamese boy with chronic granulomatous disease: a case report
por: Nguyen-Thanh, Binh, et al.
Publicado: (2023)

Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
por: Cho, Hye-Kyung, et al.
Publicado: (2014)

Comparison of Gene Editing versus a Neutrophil Elastase Inhibitor as Potential Therapies for ELANE Neutropenia
por: Makaryan, Vahagn, et al.
Publicado: (2022)

Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review
por: Wang, Jing, et al.
Publicado: (2022)

A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report
por: Dang, Dzung Ngoc Thi, et al.
Publicado: (2021)

Prevalence of Thalassemia in the Vietnamese Population and Building a Clinical Decision Support System for Prenatal Screening for Thalassemia
por: Tran, Danh Cuong, et al.
Publicado: (2023)

Using Online Respondent Driven Sampling for Vietnamese Youths' Alcohol Use and Associated Risk Factors
por: Zhang, Melvyn W. B., et al.
Publicado: (2017)

Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children
por: Nguyen, Huong Thi Thu, et al.
Publicado: (2021)

Acetylcholinesterase Inhibitory Activities of Essential Oils from Vietnamese Traditional Medicinal Plants
por: Hung, Nguyen Huy, et al.
Publicado: (2022)

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
por: Nguyen, Ngoc-Lan, et al.
Publicado: (2020)

Combined p53 and Bcl2 Immunophenotypes in Prognosis of Vietnamese Invasive Breast Carcinoma: A Single Institutional Retrospective Analysis
por: Van Nguyen, Chu, et al.
Publicado: (2020)

Dataset of Vietnamese students’ academic perfectionism and school alienation
por: Phan, Thanh-Thao Thi, et al.
Publicado: (2021)

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome
por: Dung, Vu Chi, et al.
Publicado: (2013)

Post-stroke depression in Vietnamese patients is associated with decreased sleep quality and increased fatigue: a one-institution cross-sectional analysis
por: Nguyen, Thao Thi Phuong, et al.
Publicado: (2022)

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
por: Nguyen, Huy-Hoang, et al.
Publicado: (2020)

Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure
por: Hoa, Nguyen Pham Anh, et al.
Publicado: (2022)

The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia
por: Nguyen, Mai-Lan, et al.
Publicado: (2023)

Evaluation of the clinical Index of Stable febrile neutropenia risk stratification system for management of febrile neutropenia in gynecologic oncology patients
por: Monuszko, Karen A., et al.
Publicado: (2021)

Safety of Balloon Kyphoplasty in the Treatment of Thoracic Osteoporotic Vertebral Compression Fractures in Vietnamese Patients
por: Nguyen, Dinh-Hoa, et al.
Publicado: (2020)

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2018)

Reference values for ductus venosus doppler indices of normal gestation at 22-37 weeks: A Vietnamese cohort study
por: Hong, Nguyen Thi, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_tu003fj7iiopiidnnljk1id0sc