Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology

J Allergy Clin Immunol. 2020 Jan;145(1):46-69. doi: 10.1016/j.jaci.2019.09.009. Epub 2019 Sep 27.


Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases.

Keywords: Chromosomal microarray; Mendelian; Sanger sequencing; exome sequencing; gene panel; genetic testing; genome sequencing; primary immunodeficiency; tools; variant interpretation.

Publication types

  • Review

MeSH terms

  • Asthma
  • Genetic Testing*
  • Humans
  • Primary Immunodeficiency Diseases* / diagnosis
  • Primary Immunodeficiency Diseases* / genetics
  • Primary Immunodeficiency Diseases* / therapy
  • United States