检索结果-南通市图书馆

Genetics of severe combined immunodeficiency

Genes & Diseases 2020年第1期7卷 52-61页

作者： Rajni Kumrah Pandiarajan Vignesh Pratap Patra Ankita Singh Gummadi Anjani Poonam Saini Madhubala Sharma Anit Kaur Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

severe combined immunodeficiency(SCID)is an inherited group of rare,lifethreatening disorders due to the defect in T cell development and *** manifestations are characterised by recurrent and severe bacterial,viral,and fungal opportunistic infections that start from early infancy *** stem cell transplantation(HSCT)is the treatment of *** pattern of inheritance of SCID may be X-linked or autosomal *** the diagnosis of SCID is usually established by flow cytometry-based tests,genetic diagnosis is often needed for genetic counselling,prognostication,and modification of pre-transplant chemotherapeutic *** review aims to highlight the genetic aspects of SCID.

关键词： Adenosine deaminase Flow cytometry Genetics Newborn screening severe combined immunodeficiency

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Clinical Characteristics and Genetic Profiles of severe combined immunodeficiency: a Single Center Experience in China

Clinical Characteristics and Genetic Profiles of Severe Comb...

引用

第十届全国免疫学学术大会

作者： TongxinChen YingyingJin JingWu 上海儿童医学中心

Rationale:severe combined immunodeficiency(SCID),a rare PID,is poorly characterized in *** retrospectively reviewed patients with SCID refered to our hospital from 2004 to 2013,and summarize their clinical manifestati... 详细信息

关键词： severe combined immunodeficiency HSCT gene mutation BCG

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Against all odds: The road to success in the development of human immune reconstitution mice

引用

ANIMAL MODELS AND EXPERIMENTAL MEDICINE 2024年第4期7卷 460-470页

作者： Bin, Yixiao Ren, Jing Zhang, Haowei Zhang, Tianjiao Liu, Peijuan Xin, Zhiqian Yang, Haijiao Feng, Zhuan Chen, Zhinan Zhang, Hai Shaanxi Univ Chinese Med Sch Basic Med Sci Xianyang Peoples R China Fourth Mil Med Univ Natl Translat Sci Ctr Mol Med Dept Cell Biol Xian Peoples R China Fourth Mil Med Univ State Key Lab New Targets Discovery & Drug Dev Maj Xian Peoples R China Fourth Mil Med Univ Sch Publ Hlth Dept Occupat & Environm Hlth Xian Peoples R China Fourth Mil Med Univ Sch Publ Hlth Minist Educ Key Lab Hazard Assessment & Control Special Operat Xian Peoples R China

The mouse genome has a high degree of homology with the human genome, and its physiological, biochemical, and developmental regulation mechanisms are similar to those of humans; therefore, mice are widely used as experimental animals. However, it is undeniable that interspecies differences between humans and mice can lead to experimental errors. The differences in the immune system have become an important factor limiting current immunological research. The application of immunodeficient mice provides a possible solution to these problems. By transplanting human immune cells or tissues, such as peripheral blood mononuclear cells or hematopoietic stem cells, into immunodeficient mice, a human immune system can be reconstituted in the mouse body, and the engrafted immune cells can elicit human-specific immune responses. Researchers have been actively exploring the development and differentiation conditions of host recipient animals and grafts in order to achieve better immune reconstitution. Through genetic engineering methods, immunodeficient mice can be further modified to provide a favorable developmental and differentiation microenvironment for the grafts. From initially only being able to reconstruct single T lymphocyte lineages, it is now possible to reconstruct lymphoid and myeloid cells, providing important research tools for immunology-related studies. In this review, we compare the differences in immune systems of humans and mice, describe the development history of human immune reconstitution from the perspectives of immunodeficient mice and grafts, and discuss the latest advances in enhancing the efficiency of human immune cell reconstitution, aiming to provide important references for immunological related researches. Over recent decades, researchers have been actively exploring the development and differentiation conditions of host recipient animals and grafts in order to achieve better immune reconstitution. The human immune system can be reconstituted

关键词： hematopoietic stem cell human immune reconstitution immune response immunodeficient mice peripheral blood mononuclear cell transplantation HEMATOPOIETIC STEM-CELLS severe combined immunodeficiency MOUSE MODEL NITRIC-OXIDE BONE-MARROW SCID MOUSE CLASS-I ENGRAFTMENT SYSTEM DEFICIENT

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China

引用

World Journal of Pediatrics 2023年第7期19卷 687-700页

作者： Yue Zhang Wei Liu Zhou Shu Yan Li Fei Sun Zhi-Gang Li Tong-Xin Han Hua-Wei Mao Tian-You Wang Department of Immunology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthNo.56 Nan Lishi RoadXicheng DistrictBeijing 100045China Hematology Oncology Center Henan Children's HospitalChildren's Hospital Affiliated of Zhengzhou UniversityZhengzhou Children's HospitalZhengzhouChina Hematologic Disease Laboratory Beijing Pediatric Research InstituteBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Hematology Center Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthNo.56 Nan Lishi RoadXicheng DistrictBeijing 100045China Beijing Key Laboratory of Pediatric Hematology Oncology National Key Discipline of PediatricsCapital Medical UniversityBeijingChina Key Laboratory of Major Diseases in Children Ministry of EducationBeijingChina

Background Adenosine deaminase(ADA)is a key enzyme in the purine salvage *** defects of the ADA gene can cause a subtype of severe combined *** date,few Chinese cases have been *** We retrospectively reviewed the medical records of patients diagnosed with ADA deficiency in Beijing Children's Hospital and summarized the previously published ADA deficiency cases from China in the *** Nine patients were identified with two novel mutations(W272X and Q202=).Early-onset infection,thymic abnor-malities and failure to thrive were the most common manifestations of Chinese ADA-deficient *** ADA genotype has a major effect on the clinical ***,a novel synonymous mutation(c.606G>A,p.Q202=)was identified in a delayed-onset patient,which affected pre-mRNA splicing leading to a frameshift and premature truncation of the ***,the patient showed γδT cells expansion with an increased effect or phenotype,which may be associated with the delayed onset of *** addition,we reported cerebral aneurysm and intracranial artery stenosis for the first time in ADA *** patients died with a median age of four months,while two patients received stem cell transplantation and are *** This study described the first case series of Chinese ADA-deficient ***-onset infection,thymic abnormalities and failure to thrive were the most common manifestations in our *** identified a synonymous muta-tion that affected pre-mRNA splicing in the ADA gene,which had never been reported in ADA ***,we reported cerebral aneurysm in a delayed-onset patient for the first *** study is warranted to investigate the underlying mechanisms.

关键词： Adenosine deaminase deficiency Cerebral aneurysm Gamma delta severe combined immunodeficiency Synonymous mutation

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：