Cargando…

A variant of RAG1 gene identified in severe combined immunodeficiency: a case report

BACKGROUND: The recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process. Mutations in RAG1 have been reported to be associated with several types of immune disorders. Typical clinical features driven by RAG1 variants include pe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Xinping, Kang, Xiayan, Yang, Meiyu, Cai, Zili, Song, Yulei, Zhou, Xiong, Cao, Jianshe, Wang, Chengjuan, Huang, Kang, Peng, Yani, He, Jie, Xiao, Zhenghui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896705/ https://www.ncbi.nlm.nih.gov/pubmed/36732712 http://dx.doi.org/10.1186/s12887-022-03822-0

Ejemplares similares

Severe combined immunodeficiency syndrome with RAG1 mutation gene - case report
por: Lima, Ana Lúcia, et al.
Publicado: (2015)

Predicting the Occurrence of Variants in RAG1 and RAG2
por: Lawless, Dylan, et al.
Publicado: (2019)

iPSC-Based Modeling of RAG2 Severe Combined Immunodeficiency Reveals Multiple T Cell Developmental Arrests
por: Themeli, Maria, et al.
Publicado: (2020)

Generation of inactivated IL2RG and RAG1 monkeys with severe combined immunodeficiency using base editing
por: Zheng, Xiao, et al.
Publicado: (2023)

The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice
por: Jin, Young, et al.
Publicado: (2019)

Increased and prolonged human norovirus infection in RAG2/IL2RG deficient gnotobiotic pigs with severe combined immunodeficiency
por: Lei, Shaohua, et al.
Publicado: (2016)

Biological Characteristics of Severe Combined Immunodeficient Mice Produced by CRISPR/Cas9-Mediated Rag2 and IL2rg Mutation
por: Zhao, Yong, et al.
Publicado: (2019)

Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations
por: Szaflarska, Anna, et al.
Publicado: (2017)

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency
por: Govindaraj, Geeta Madathil, et al.
Publicado: (2017)

Impaired sense of smell and altered olfactory system in RAG-1(−∕−) immunodeficient mice
por: Rattazzi, Lorenza, et al.
Publicado: (2015)

Gut Microbiota Contributes to Resistance Against Pneumococcal Pneumonia in Immunodeficient Rag(−/−) Mice
por: Felix, Krysta M., et al.
Publicado: (2018)

The genetic basis of severe combined immunodeficiency and its variants
por: Tasher, Diana, et al.
Publicado: (2012)

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency
por: Dorna, Mayra B., et al.
Publicado: (2019)

Genome-Wide Analysis Identifies Rag1 and Rag2 as Novel Notch1 Transcriptional Targets in Thymocytes
por: Dong, Yang, et al.
Publicado: (2021)

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency
por: Walter, Jolan E., et al.
Publicado: (2010)

Rag1 and Rag2 Gene Expressions Identify Lymphopoietic Tissues in Larvae of Rice-Field Eel (Monopterus albus)
por: Liu, Yuchen, et al.
Publicado: (2022)

The Rag Weed
Publicado: (1886)

Allogeneic and xenogeneic lymphoid reconstitution in a RAG2(−/−)IL2RG(y/−) severe combined immunodeficient pig: A preclinical model for intrauterine hematopoietic transplantation
por: Sper, Renan B., et al.
Publicado: (2022)

Classic piano rags : complete original for 81 rags
Publicado: (1973)

RAG1 targeting in the genome is dominated by chromatin interactions mediated by the non-core regions of RAG1 and RAG2
por: Maman, Yaakov, et al.
Publicado: (2016)

ARG098, a novel anti-human Fas antibody, suppresses synovial hyperplasia and prevents cartilage destruction in a severe combined immunodeficient-HuRAg mouse model
por: Odani-Kawabata, Noriko, et al.
Publicado: (2010)

Rag1 immunodeficiency‐induced early aging and senescence in zebrafish are dependent on chronic inflammation and oxidative stress
por: Novoa, Beatriz, et al.
Publicado: (2019)

Complete piano rags
por: Joplin, Scott, 1868-1917
Publicado: (1988)

Ragging: Let's say NO to it
por: Desai, Chetna
Publicado: (2009)

Working among Rags
por: Murray, J. Jardine
Publicado: (1859)

Sugar from Rags
Publicado: (1881)

Sequence of the RAG1 and RAG2 Intergenic Region in Zebrafish (Danio rerio)
por: Bertrand III, F. E., et al.
Publicado: (1998)

A Novel Quantitative Fluorescent Reporter Assay for RAG Targets and RAG Activity
por: Trancoso, Inês, et al.
Publicado: (2013)

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma
por: Chitty-Lopez, Maria, et al.
Publicado: (2020)

Genetics of severe combined immunodeficiency
por: Kumrah, Rajni, et al.
Publicado: (2019)

Transplantation of Human Glial Progenitors to Immunodeficient Neonatal Mice with Amyotrophic Lateral Sclerosis (SOD1/rag2)
por: Stanaszek, Luiza, et al.
Publicado: (2022)

Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations
por: Castiello, Maria Carmina, et al.
Publicado: (2023)

RAGs and BUGS: An alliance for autoimmunity
por: Rigoni, Rosita, et al.
Publicado: (2016)

Transposon Molecular Domestication and the Evolution of the RAG Recombinase
por: Zhang, Yuhang, et al.
Publicado: (2019)

Evolution of the RAG1-RAG2 locus: both proteins came from the same transposon
por: Kapitonov, Vladimir V, et al.
Publicado: (2015)

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients
por: Cifaldi, Cristina, et al.
Publicado: (2021)

Screening for severe combined immunodeficiency in neonates
por: Kelly, Brian T, et al.
Publicado: (2013)

EARLY DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCIES
por: Rizzo, Luiz Vicente
Publicado: (2017)

The half-life of RAG-1 protein in precursor B cells is increased in the absence of RAG-2 expression
Publicado: (1996)

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair
por: Lescale, Chloé, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_s46hh8k8sr541fo4frnl5vurt5