Use of Genetic Testing for Primary Immunodeficiency Patients

J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.


Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey. Finally, we delineate the CIS's recommendations for the use of genetic testing in light of these issues.

Keywords: Immunodeficiency; genetic testing; sanger sequencing; whole exome testing; whole genome testing.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Genetic Testing* / standards
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / therapy
  • Prenatal Diagnosis
  • Sequence Analysis, DNA


  • Biomarkers