检索结果-南通市图书馆

Primary immunodeficiencies:“New” Disease in an Old Country

Cellular & Molecular Immunology 2009年第6期6卷 397-406页

作者： Pamela P.W.Lee Yu-Lung Lau Department of Paediatrics and Adolescent Medicine The University of Hong KongHKSARChina Department of Paediatrics and Adolescent Medicine Room 1171/F New Clinical BuildingQueen Mary HospitalPokfulamHong KongChina

Primary immunodeficiency disorders(PIDs)are rare inborn errors of the immune *** with PIDs are unique models that exemplify the functional and phenotypic consequences of various immune defects underlying infections,autoimmunity,lymphoproliferation,allergy and *** 150 PID syndromes were characterized in the past 60 years,with an ever growing list of new entities being *** of their rarity,multi-center collaboration for pooled data analysis and molecular studies is important to gain meaningful insights into the phenotypic and genetic diversities of *** this article,we summarize our research findings on PIDs in Chinese population in the past 20 *** collaboration among various immunology centers,cross-referrals and systematic data analysis constitute the foundation for research on *** directions include establishment of a national PID registry,raising awareness of PIDs and securing sufficient resources for patient care and scientific research.

关键词： primary immunodeficiency disorders immunodeficiencies development research China

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

Abnormality in T cell repertoire contributes to immunodeficiencies in patients with DNA repair defects

Abnormality in T cell repertoire contributes to immunodefici...

引用

第十三届全国免疫学学术大会

作者： Liya Lin Mingyan Fang Wei Zhang Jinghua Wu BGI-ShenZhen

DNA damage response is essential during antigen receptor recombination. To investigate the effect of mutations in DNA repairing genes on adaptive immunity, we performed whole exome and TCR repertoire sequencing in 19 patients with DNA repair defects and 14 controls. Patients with different molecular diagnosis exhibited distinct repertoire diversity, clonality and V-J pairing patterns. Aberrant complementarity-determining region 3(CDR3) length distribution was observed both in unproductive and productive TCRs in all patients, suggesting that it is predominantly arose before thymic selection. Shorter CDR3 lengths in AT patients result from a decreased number of insertions, leading to an increase in the number of shared clonotypes, whereas patients with DNMT3 B and ZBTB24 mutations presented longer CDR3 lengths and reduced specificity for known antigens. Our study reveals the role of DNA repair machinery in patients with AT, ICF1 and ICF2, and sheds light on the mechanistic etiology of their T cell dysfunction.

关键词： immunodeficiencies adaptive immunity T cell repertoire

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

Follicular helper T lymphocytes in health and disease

引用

World Journal of Hematology 2014年第4期3卷 118-127页

作者： Cecilia Parodi María Noel Badano Nora Galassi Ana Coraglia Patricia Baré Alejandro Malbrán María Marta de Elizalde de Bracco Department of Immunology Instituto de Medicina Experimental (IMEX)– CONICET-Academia Nacional de Medicina (ANM) Pacheco de Melo 3081Ciudad Autónoma de Buenos Aires 1425Argentina Department of Virology Instituto de Investigaciones Hematológicas Mariano Castex (IIHEMA)-ANMPacheco de Melo 3081Ciudad Autónoma de Buenos Aires 1425Argentina Unidad de Alergia e Inmunología Clínica Av. Pte. Roque Saenz Pe?a 1160Ciudad Autónoma de Buenos Aires C1431GHABuenos AiresArgentina

A correct antibody response requires the participation of both B and T lymphocytes and antigen presenting cells. In this review we address the role of follicular helper T lymphocytes(T FH) in this reaction. We shall focus on the regulation of their development and function in health and disease. T FH can be characterized on the basis of their phenotype and the pattern of secretion of cytokines. This fact is useful to study their participation in the generation of antibody deficiency in primary immunodeficiency diseases such as common variable immunodeficiency, X-linked hyper Ig M syndrome orX-linked lymphoproliferative disease. Increased numbers of T FH have been demonstrated in several autoimmune diseases and are thought to play a role in the development of autoantibodies. In chronic viral infections caused by the human immunodeficiency virus, hepatitis B or C virus, increased circulating T FH have been observed, but their role in the protective immune response to these agents is under discussion. Likewise, an important role of T FH in the control of some experimental protozoan infections has been proposed, and it will be important to assess their relevance in order to design effective vaccination strategies.

关键词： Follicular helper T(TFH)lymphocytes TFH development Chemokine(C-X-C motif)receptor 5 Interleukin-21 Programmed cell death-1/Programmed cell death ligand 1(PDL-1)or PDL-2 Primary immunodeficiencies Autoimmunity Chronic viral infections Protozoan infections

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

Preimplantation HLA typing: Practical tool for stem cell transplantation treatment of congenital disorders

引用

World Journal of Medical Genetics 2014年第4期4卷 105-109页

作者： Anver Kuliev Svetlana Rechitsky Reproductive Genetics Institute ChicagoIL 60657United States

It is well known that to achieve an acceptable engraftment and survival in stem cell therapy, an human leukocyte antigens(HLA) identical stem cell transplant is strongly required. However, the availability of the HLA matched donors even among family members is extremely limited, so preimplantation HLA typing provides an attractive practical tool of stem cell therapy for children requiring HLA matched stem cell transplantation. The present experience of preimplantation genetic diagnosis(PGD) for HLA typing of over one thousand cases shows that PGD provides the at-risk couples with the option to establish an unaffected pregnancy, which may benefit the affected member of the family with hemoglobinopathies, immunodeficiencies and other congenital or acquired bone marrow failures. Despite ethical issues involved in preimplantation HLA typing, the data presented below show an extremely high attractiveness of this option for the couples with affected children requiring HLA compatible stem cell transplantation.

关键词： Preimplantation HLA typing Preimplantation genetic diagnosis Stem cell transplantation Hemoglobinopathies immunodeficiencies Aneuploidy testing

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：