scholarly journals Screening for primary immunodeficiency diseases by next‐generation sequencing in early life

2020 ◽  
Vol 9 (5) ◽  
Author(s):  
Jinqiao Sun ◽  
Lin Yang ◽  
Yulan Lu ◽  
Huijun Wang ◽  
Xiaomin Peng ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Immunodeficiency ◽  
Early Life ◽  
Next Generation ◽  
Primary Immunodeficiency Diseases ◽  
Immunodeficiency Diseases ◽  
Generation Sequencing

scholarly journals Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency

2019 ◽  
Vol 23 (5) ◽  
pp. 285-290
Author(s):  
Aravind K. Bandari ◽  
Sunil Bhat ◽  
MV Archana ◽  
Sunita Yadavalli ◽  
Krishna Patel ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Immunodeficiency ◽  
Next Generation ◽  
Family Based ◽  
Generation Sequencing

scholarly journals Outcomes of Next-Generation Sequencing Panel Testing for Primary Immunodeficiency

2019 ◽  
Vol 143 (2) ◽  
pp. AB110
Author(s):  
Nurcicek Padem ◽  
Alexander Ing ◽  
Kai Lee Yap ◽  
Asma Mustafa ◽  
Jessica Shank ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Immunodeficiency ◽  
Next Generation ◽  
Panel Testing ◽  
Generation Sequencing

scholarly journals Molekuláris genetikai vizsgálatok primer immundefektusokban

2018 ◽  
Vol 159 (49) ◽  
pp. 2095-2112
Author(s):  
Melinda Erdős
Keyword(s):  
Next Generation Sequencing ◽  
Primary Immunodeficiency ◽  
Molecular Genetic ◽  
Primary Immunodeficiencies ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
Advantages And Disadvantages ◽  
Whole Exome ◽  
Molecular Genetic Diagnostics ◽  
Generation Sequencing

Abstract: Next generation sequencing methods represent the latest era of molecular genetic diagnostics. After a general introduction on primary immunodeficiencies, the author summarizes the importance of molecular genetic studies, especially next generation sequencing in the diagnosis of primary immunodeficiencies. Another purpose of the manuscript is to give a brief summary on the methodological basis of next generation sequencing. The author analyzes the advantages and disadvantages of primary immunodeficiency gene-panel sequencing and whole-exome and whole-genome sequencing. Primary immunodeficiency genes and diseases recognized by next generation sequencing is also summarized. Finally, the author emphasizes the indispensability of gene level diagnostics in primary immunodeficiencies and presents the results achieved in this field in Hungary. Orv Hetil. 2018; 159(49): 2095–2112.

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