Cargando…

Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review

The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection. PATIENT CONCERNS: We report a c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Jing, Zhang, Haitao, Wang, Yu, Liang, Lei, Yang, Zeyu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646559/ https://www.ncbi.nlm.nih.gov/pubmed/36343040 http://dx.doi.org/10.1097/MD.0000000000031357

Ejemplares similares

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report
por: Chen, Xin, et al.
Publicado: (2018)

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

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)

Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report
por: Vu, Quang Van, et al.
Publicado: (2015)

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

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

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

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
por: Luo, Fangmei, et al.
Publicado: (2023)

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

Novel mutation in the SETD1A gene in a newborn patient associating with congenital airway and heart defeats: A case report
por: Jin, Long, et al.
Publicado: (2023)

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)

Congenital syphilis unusually presenting with prematurity-related severe neonatal morbidities including meconium obstruction: A case report and review of the literature
por: Lee, Hyun-Seung, et al.
Publicado: (2020)

NAXE gene mutation-related progressive encephalopathy: A case report and literature review
por: Chiu, Li-Wei, et al.
Publicado: (2021)

Congenital diaphragmatic hernia in association with congenital short esophagus: A case report
por: Xia, Bo, et al.
Publicado: (2017)

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review
por: Abidi, Kamal T., et al.
Publicado: (2020)

A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
por: Zhou, Dan, et al.
Publicado: (2021)

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)

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports
por: Pham, Anh-Hoa Nguyen, et al.
Publicado: (2022)

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
por: Yoon, Su Hyun, et al.
Publicado: (2021)

Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
por: Wang, Yanchun, et al.
Publicado: (2022)

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature
por: Kang, Qingyun, et al.
Publicado: (2021)

Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report
por: Zhang, Yimin, et al.
Publicado: (2021)

Congenital diaphragmatic hernias: Severe defect grade predicts the need for fundoplication
por: Guglielmetti, Laura C., et al.
Publicado: (2020)

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)

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review
por: Yan, Hui-ming, et al.
Publicado: (2017)

Asymptomatic congenital tuberculosis: A case report
por: Meyer Sauteur, Patrick M., et al.
Publicado: (2017)

Extrarenal teratoma with nephroblastoma in the retroperitoneum: Case report and literature review
por: Li, Yanan, et al.
Publicado: (2017)

Novel IVS7+1G>T mutation of life-threatening congenital factor VII deficiency in neonates: A retrospective study in China
por: He, Juan, et al.
Publicado: (2019)

Obstructive internal hernia caused by mesodiverticular bands in children: Two case reports and a review of the literature
por: Bertozzi, Mirko, et al.
Publicado: (2017)

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report
por: Feng, Jinhua, et al.
Publicado: (2023)

Different evolution in the treatment of a severe persistent asthma in 2 twins: Case report and review of the literature
por: Ioniuc, Ileana, et al.
Publicado: (2017)

Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report
por: Cai, Xiaotang, et al.
Publicado: (2018)

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review
por: Lihua, Jiang, et al.
Publicado: (2017)

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report
por: Qian, Meijia, et al.
Publicado: (2022)

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation
por: Fattorusso, Antonella, et al.
Publicado: (2020)

A young infant with transient severe hypertriglyceridemia temporarily associated with meropenem administration: A case report and review of the literature
por: Esposito, Susanna, et al.
Publicado: (2016)

Neonatal Kawasaki disease: Case report and literature review
por: Li, Cancan, et al.
Publicado: (2021)

Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report
por: Aota, Keiko, et al.
Publicado: (2019)

A chronic EBV infection causing persistent facial erythema multiforme and a retrospective literature review: A case report
por: Fenfang, Peng, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_nems84gahubn35uonk3iaombf9