Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions

被引：51

作者：

Fang, Mingyan ^{[1
,2
]}

Abolhassani, Hassan ^{[1
,3
]}

Lim, Che Kang ^{[1
,4
]}

Zhang, Jianguo ^{[2
]}

Hammarstrom, Lennart ^{[1
]}

机构：

[1] Karolinska Univ Hosp Huddinge, Dept Lab Med, Div Clin Immunol & Transfus Med, S-14186 Stockholm, SE, Sweden

[2] BGI Shenzhen, Shenzhen 518083, Peoples R China

[3] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran

[4] Singapore Gen Hosp, Dept Clin Res, Singapore 169856, Singapore

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2016年 / 36卷

关键词：

Primary immunodeficiency (PIDs); next generation sequencing; candidate gene screening; COMMON VARIABLE IMMUNODEFICIENCY; X-LINKED AGAMMAGLOBULINEMIA; SELECTIVE IGA DEFICIENCY; CANDIDATE GENES; ANTIBODY DEFICIENCY; TYROSINE KINASE; MUTATIONS; PHENOTYPE; VARIANTS; DISEASES;

D O I：

10.1007/s10875-016-0260-y

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to date. Next Generation Sequencing (NGS) has recently become an increasingly used approach for gene identification and molecular diagnosis of human diseases. Herein we summarize the practical considerations for the interpretation of NGS data and the techniques for searching disease-related PID genes, and suggest future directions for research in this field.

引用

页码：S68 / S75

页数：8

共 45 条

[41]

Vorechovsky I, 1997, HUM MUTAT, V9, P418

[42] TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing [J].

Wang, Jun Ling ;

Yang, Xu ;

Xia, Kun ;

Hu, Zheng Mao ;

Weng, Ling ;

Jin, Xin ;

Jiang, Hong ;

Zhang, Peng ;

Shen, Lu ;

Guo, Ji Feng ;

Li, Nan ;

Li, Ying Rui ;

Lei, Li Fang ;

Zhou, Jie ;

Du, Juan ;

Zhou, Ya Fang ;

Pan, Qian ;

Wang, Jian ;

Wang, Jun ;

Li, Rui Qiang ;

Tang, Bei Sha .

BRAIN, 2010, 133 :3510-3518

[43]

Yang H, 2015, NAT METHODS, V12, P841, DOI [10.1038/nmeth.3484, 10.1038/NMETH.3484]

[44]

Zeng H, 2013, J INVEST ALLERG CLIN, V23, P302

[45] Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis [J].

Zhang, Kejian ;

Chandrakasan, Shanmuganathan ;

Chapman, Heather ;

Valencia, Alexander ;

Husami, Ammar ;

Kissell, Diane ;

Johnson, Judith A. ;

Filipovich, Alexandra H. .

BLOOD, 2014, 124 (08) :1331-1334

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