Journal of Clinical Immunology

, Volume 36, Supplement 1, pp 68–75 | Cite as

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

  • Mingyan Fang
  • Hassan Abolhassani
  • Che Kang Lim
  • Jianguo Zhang
  • Lennart HammarströmEmail author


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.


Primary immunodeficiency (PIDs) next generation sequencing candidate gene screening 



Next generation sequencing


Primary immunodeficiency diseases


Mendelian disorders


Whole genome sequencing


Whole exome sequencing


Quality control



We appreciate the participation of the patients and their families; without their support, this work would not have been possible.

Compliance with Ethical Standards

Authorship Contributions

M.F. performed bioinformatics analysis, results interpretation, made the figures and wrote the paper; H.A. performed experiments, analyzed results and wrote the paper; C.K. analyzed results and wrote the paper. J. Z. performed the WES and L.H. designed the project and edited the paper.

Disclosure of Conflicts of Interest



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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion MedicineKarolinska University Hospital HuddingeStockholmSweden
  2. 2.BGI-ShenzhenShenzhenChina
  3. 3.Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  4. 4.Department of Clinical ResearchSingapore General HospitalSingaporeSingapore

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